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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
Tue Dec 06 2022
Journal Name
Iraqi National Journal Of Nursing Specialties
Quality of Life of Children age from (8- lessthan13) years with Acute Lymphocytic Leukemia Undergoing Chemotherapy at Hematology Center in Medical City
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Objective (s): To assess the QoL of children age from (8- lessthan13) years with acute lymphocytic leukemia undergoing chemotherapy and to find out the relationship between the QoL of children with acute lymphocytic leukemia and their illness history.

Methodology:  A descriptive study included (40) children with acute lymphocytic leukemia who were ranged between (8 - less than 13 years) at the Hematology Center in Medical City for the period from 4th March 2021 to 1st September 2021. The sample was non-probability (purposive) sample of children (male and female). A questionnaire designed with 2 main parts was used. The first part focused on sociodemographic characterist

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Publication Date
Thu Dec 01 2022
Journal Name
Environmental Nanotechnology Monitoring & Management
Green approach for the synthesis of graphene glass hybrid as a reactive barrier for remediation of groundwater contaminated with lead and tetracycline
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Publication Date
Mon Sep 01 2025
Journal Name
Continence
Does the presence of Fowler's syndrome predicts successful long-term outcome of sacral nerve stimulation in women with non-obstructive urinary retention?
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Publication Date
Thu Apr 01 2021
Journal Name
Neuroquantology
Finding Most Stable Isobar for Nuclides with Mass Number (165- 175) against Beta Decay
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In the beta decay process, a neutron converts into a proton, or vice versa, so the atom in this process changes to a more stable isobar. Bethe-Weizsäcker used a quasi-experimental formula in the present study to find the most stable isobar for isobaric groups of mass nuclides (A=165-175). In a group of isobars, there are two methods of calculating the most stable isobar. The most stable isobar represents the lowest parabola value by calculating the binding energy value (B.E) for each nuclide in this family, and then drawing these binding energy values as a function of the atomic number (Z) in order to obtain the mass parabolas, the second method is by calculating the atomic number value of the most stable isobar (ZA). The results show

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Publication Date
Wed Jan 30 2019
Journal Name
Journal Of The College Of Education For Women
Peripheral Perception And its Relation With The Need for Cognition for The University Students
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The most important topic for psychologist generally is factor of education and it's active tools because learning needs active perception for stimulus that recived by the educator and give it avalue and meaning , Need for cognition is
very important in the various daily fields of life , especially in learning and teaching and the academy work , it help with shifting the learning level for people , and icreas the intense and challenge between them
The research endeavored to achieve the following aim :
1- Measuring the level of peripheral perception for the university student .
2- Measuring the level of need for cognition for the university student .
3- Measuring the level of peripheral perception for the university student

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Publication Date
Thu Oct 01 2015
Journal Name
Journal Of Educational And Psychological Researches
Guilt and its relationship with the self-awareness Educational research Open Educational College Students
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Targeted current research study of the relationship between guilt and self-consciousness and consisted of the research community of students from the open educational college, as has been selected students in the Department of Counseling and psychological science department and the researcher used guilt, prepared Scale (Ansari, 2003), and the measure of selfawareness prepared (Shammari 0.2000), and extracted his Alsekoumtria characteristics, Fastkhrjt alternatives after a presentation to a group of experts and specialists in the field of psychological counseling psychology, education, science and psychological validity and reliability Alvakronbach manner and retesting reaching reliability coefficient of guilt ((0.85) and awarenes

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Publication Date
Sat Mar 01 2025
Journal Name
Acta Marisiensis - Seria Medica
Transcatheter balloon valvuloplasty for children with severe pulmonary valve stenosis: A single-center experience
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Abstract<p> <bold>Objectives</bold>: this study aim to assess the effectiveness of the Transcatheter balloon valvoplasty (BVP) of severe Pulmonary stenosis (PS) and identify possible complications and predictors for the outcome.</p><p> <bold>Methods</bold>: A retrospective study was conducted at the Iraqi Center of Cardiac Diseases for a 2-year duration in the period from 2021 to the end of 2023; the patients with confirmed severe PS of both genders within the age equal to or less than 18 years were included. For every patient included in the present study, the following data were collected: Demographic data, Echoc</p> ... Show More
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Publication Date
Sat Nov 01 2014
Journal Name
International Journal Of Statistics
Single and Double Stage Shrinkage Estimators for the Normal Mean with the Variance Cases
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Publication Date
Thu Jun 15 2023
Journal Name
Romanian Neurosurgery
A giant A4-A5 distal anterior cerebral artery aneurysm treated with microsurgical clip reconstruction
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Background. Aneurysms of the distal anterior cerebral artery (DACA) are uncommon; they often form near the pericallosal-callosomarginal junction and are typically small. To our knowledge, giant DACA aneurysms developing from the more distant parts of the anterior cerebral artery (ACA), A4-5, have been described only once in the literature. Case description. A 66-year-old gentleman reported with a brief loss of consciousness followed by weakness in his right lower leg. The patient was admitted with a Glasgow Coma Score (GCS) of 15. A computed tomography (CT) scan of the head revealed a left hyperdense mass in the frontal parasagittal supracallosal region. Contrast MRI revealed a heterogeneously enhancing mass measuring 35x30x25 mm. C

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Publication Date
Fri Jan 01 2016
Journal Name
International Journal Of Advanced Computer Science And Applications
Face Detection and Recognition Using Viola-Jones with PCA-LDA and Square Euclidean Distance
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