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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 Mar 01 2020
Journal Name
Agricultural Engineering
Analysis of the Vacuum-Steam Defrosting Process of Plums Pre-Treated with Dehydrofreezing
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Abstract<p>The research material was prune plums (<italic>Prunus domestica</italic> L.), subjected to osmotic pre-treatment, with variable process time parameters and osmotic solution concentration. Plums thus fixed were frozen and stored for 6 months. At even (monthly) intervals, the product was defrosted by the vacuum-steam method, using the s-p-p chamber, until the thermocouple indicated a temperature of 4ºC in the sample’s thermal center. In order to study the kinetics of phenomena occurring during the defrosting process, the chamber was equipped with a measuring system to enable measurement and recording of temperature changes in time in the geometric center of the sample, as w</p> ... Show More
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Publication Date
Sun Mar 19 2023
Journal Name
Journal Of Educational And Psychological Researches
E-Learning and Its Relationship with Academic Passion among Middle School Students
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Abstract

The current research aims to identify the level of E-learning among middle school students, the level of academic passion among middle school students, and the correlation between e-learning and academic passion among middle school students. In order to achieve the objectives of the research, the researcher developed two questionnaires to measure the variables of the study (e-learning and study passion) among students, these two tools were applied to the research sample, which was (380) male and female students in the first and second intermediate classes. The research concluded that there is a relationship between e-learning and academic passion among students.

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Publication Date
Sun Jun 10 2018
Journal Name
Annals Of Clinical And Analytical Medicine
Lead among children with autism in Iraq. Is it a potential factor?
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Abstract Aim: Autism is a neurodevelopmental disorder which affects communication and social interaction of children. It is a heterogeneous disease with various clinical presentations. Some genes are involved in its pathogenesis. It has been suggested that environmental exposure to lead can increase the risk of autism. The aim of our study was to compare blood lead levels among autistic and non-autistic children. Material and Method: This retrospective study included 107 children (60 with autism and 47 without autism) referred from the different Iraqi provinces, in the years 2015, 2016 and 2017, to the poisoning consultation center in Baghdad. Data collection including age, gender, residence, referral source, family history and blood lead l

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Publication Date
Thu Nov 20 2025
Journal Name
Iraqi Journal Of Science
EXTRACELLULAR SUPEROXIDE DISMUTASE CHANGES IN PATIENTS WITH DIFFERENT BRAIN TUMORS
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The Specific activity of extracellular superoxide dismutase (EC-SOD) was measured in healthy persons and in patients with benign and malignant brain tumors. The results show decrease of the EC-SOD specific activity in sera of patients with benign and malignant brain tumors in comparison to that of control group.This study concentrated on studying the changes that occur in sera EC-SOD activity of patients with benign and malignant brain tumors, in comparison to that of normal individuals. The result also revealed that this isoenzyme is present in many different molecular weights forms (as judged by polyacrylamide gel electrophoresis), some of these with no enzymatic activity. Conversion among these forms occurs in the malignant sera

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Publication Date
Fri Nov 01 2013
Journal Name
Journal Of Drugs In Dermatology: Jdd
Melanocytes transplantation in patients with vitiligo using needling micrografting technique.
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KE Sharquie, AA Noaimi, HA Al-Mudaris, Journal of Drugs in Dermatology: JDD, 2013 - Cited by 22

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Publication Date
Tue Jan 16 2018
Journal Name
International Journal Of Science And Research
Some Biochemical Assays in Hemodialysis Patients with Chronic Hepatitis C
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Abstract: The present study aimed to evaluate calcium, potassium, albumin, protein, creatinine, urea, uric acid levels, and the level of total sialic acid in the sera of patients with chronic renal failure who had been infected with Hepatitis C virus and in the sera of patients with chronic renal failure, and compare them with healthy volunteers. A total of 90 subjects with age 25-55 years, were divided into three groups. G1 represents 30 patients with chronic renal failure who had treated by dialysis and infected with chronic Hepatitis C virus (positive group). G2 represents 30 patients with chronic failure who had been treated by dialysis (negative group), while G3 represents 30 healthy volunteers (control group). The results showed

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Publication Date
Thu Jan 30 2014
Journal Name
Al-kindy College Medical Journal
Change in Taste in Diabetic Patients with Facial Nerve Palsy
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Background: Bell's palsy was defined as facial weakness of lower motor neuron type caused by idiopathic facial nerve involvement outside the central nervous system without evidence of aural or more widespread neurologic disease. The cause is unclear, but the disorder occurs more commonly in diabetics.Objectives: to differentiate cases of idiopathic Bell's palsy from diabetic mononeuropathy presented with Facial nerve palsy by assessing the taste, because they differ in etiology, management & prognosis.Patients &Methods: One hundred and fifteen consecutive patients were referred for the treatment of facial palsy, from May the 5th 2012 to April 12th 2013 in Al-Kindy Teaching Hospital and The Neurosciences Hospital, in Baghdad / Ira

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Publication Date
Sun Mar 07 2010
Journal Name
Baghdad Science Journal
Lymphocyte phenotyping in untreated children patients with chronic allergic asthma
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This study aimed to isolate and phenotype lymphocytes in untreated children patients with chronic allergic asthma. To reach such aim the study involved (25) patients from children (17 male and 9 female) whom their ages where between (3-10) years, in addition to (15) apparently healthy children (9 male and 6 female) in the same ages involved as control group. The data demonstrated that there was a significant increase in the mean percentages of T-lymphocytes (CD3+ cells) in the peripheral blood of patients (66.75±0.29)**, in comparison with control group (43.58±0.19), a significant increase in the mean percentages of T-helper lymphocytes (CD4+ cells) in the pe

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Publication Date
Thu Jan 07 2021
Journal Name
Indian Journal Of Forensic Medicine &amp; Toxicology
Thyroid Carcinoma Patients Correlated With Cytomegalovirus by using Insitu Hybridization
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Publication Date
Mon Apr 04 2022
Journal Name
Journal Of Educational And Psychological Researches
Fear of Intimacy and its Relationship with Post-Traumatic Stress Disorder among Yazidis Women
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The current research aims to identify the fear of intimacy and post-traumatic stress disorder among Yazidi women and the correlation between them. To achieve the objectives of the research, the researcher adopted the Descutner, 1991 & (Thelen) scale, which consisted of (35) items. The researcher also adopted the post-traumatic stress disorder scale for (Davidson, 1995) translated by (Abdul Aziz Thabet), which consists of (17) items. These two scales were administered to a sample of (200) individuals. Then, the researcher analyzes the data using the Statistical Package for Social Sciences (SPSS). The results showed that the research sample of Yazidi women has a fear of intimacy. The research sample of Yazidi women is characterized by

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