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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
Fri May 01 2015
Journal Name
Transplantation Proceedings
Prevalence of Polyomavirus Among United Arab Emirates Kidney Transplant Recipients: Results From a Single Center
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Publication Date
Fri Jun 30 2023
Journal Name
نسق
the effect of the semantic map strategy on predictive thinking among fifth grade femal students
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Publication Date
Thu Nov 01 2018
Journal Name
Iraqi National Journal Of Nursing Specialties
Study on the Prevalence of Intestinal Parasites Among Children Attending Al-Daura Health Centre-Baghdad
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Abstract The present study on the prevalence of intestinal parasitic infection from July 2003 to July 2004 ,was conducted among children aged(less than 5 -14 )years attending AL-Daura Health Centre in Baghdad City .(350) specimen were choosen randomly and examined, 160(45.7%) of these were infected , 140 (87.5%) harboured one parasite while 20 (12.5%) harboured more than one parasite.190 (54.3%) were non infected with any of intestinal parasite . It was observed that the most common intestinal protozoa among children is Giardia lamblia, followed by Entamoeba histolytica and Blastocystis hominis with pre

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Publication Date
Fri Oct 09 2026
Journal Name
Journal Of Physical Education
The Effect of Daily Timing Variation on some Motor Abilities and Anaerobic Ability among Sabers
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Publication Date
Mon Oct 01 2018
Journal Name
Journal Of Educational And Psychological Researches
The psychometric Properties of Emotional Stability scale among university students according to the response theory
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The current research aims at extracting the standard characteristics of the emotional balance of the university students according to the response theory. This was accomplished by following accredited scientific steps, to achieve this goal, the researcher followed scientific steps in the procedures of the analysis of the scale. She translated the scale from English to Arabic and then made a reverse translation. it was presented to a committee of experts in English to ensure and verify the validity of the paragraphs logically and prove the face validity of the scale, which consists of (30) paragraphs, it was presented to (6) experts who are specialists in the educational and psychological sciences and in the light of their observations ha

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Publication Date
Sun Apr 30 2023
Journal Name
Al-kindy College Medical Journal
Knowledge, Attitudes, and Practice of Self-Medication among Medical Students at Sudan International University, Sudan
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Background: Self-medication is a practice or action taken by individuals for themselves in order to achieve and maintain health, as well as to avoid and protect against disease. The aim of this study is to evaluate the knowledge, attitudes, and practice of self-medication among medical students at Sudan International University.

Subjects & Methods: This was a prospective study that involved 288 out of 1000 students in the Faculty of Medicine at Sudan International University. Data were collected using a self-administered questionnaire from January to March 2022 to evaluate the self-medication knowledge, attitude, and practice among first, second, and third-ye

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Publication Date
Sun Apr 01 2018
Journal Name
Journal Of Educational And Psychological Researches
The effectiveness of Barman model in acquiring the historical concepts among fourth-grade literary students
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The researcher attempts to examine Barman model in acquiring the historical concepts among fourth-grade students at literary classrooms. To this end, the researcher held the null hypothesis, there is no significant difference between the experimental groups who was taught based on Barman model and the control group that taught based on the traditional method in acquiring the historical concepts on the post-test. To testify the effectiveness of Barman model, the researcher administered a questionnaire included (60) items on bunch of female-students who were selected from al-khamaeal preparatory school in al-hurriyah district in Baghdad. The author utilized different statistical tools to analyze the collected data.    &

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Publication Date
Sat Jan 01 2022
Journal Name
3rd International Scientific Conference Of Alkafeel University (iscku 2021)
Prevalence of Entamoeba histolytica among enteric infection in Al-Furat general hospital in Baghdad/Iraq
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Publication Date
Sun Dec 01 2024
Journal Name
Journal Of Education And Health Promotion
Knowledge-related iron deficiency anemia among undergraduate nursing female students in the University of Baghdad
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BACKGROUND:

Globally, iron deficiency anemia is a problematic nutritional deficiency health-related issue that impacts early-adulthood people such as university students. The aim was to asses female nursing students’ knowledge concerning iron deficiency anemia in the College of Nursing, University of Baghdad.

MATERIALS AND METHODS:

A cross-sectional survey was carried out from the period of June 18, 2023 to December 20, 2023. Nonprobability (purposive) samples of 100 female nursing students were selected from the second, third, and fourth stages in the College of N

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Publication Date
Mon Apr 01 2024
Journal Name
Journal Of The Faculty Of Medicine Baghdad
Impact of Clinical Pharmacist Intervention on Chemotherapy Knowledge, Attitude, and Practice among Breast Cancer Women
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الخلفية: إن سمية الدواء والآثار الجانبية للعلاج الكيميائي تؤثر سلبا على مرضى سرطان الثدي. الأهداف: لتقييم فعالية التدخلات الصيدلانية في تحسين معرفة مرضى سرطان الثدي ومواقفهم وممارساتهم فيما يتعلق بالعلاج الكيميائي لسرطان الثدي.

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