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Molecular Analysis of CYP21A2 Gene Mutations among Iraqi Patients with Congenital Adrenal Hyperplasia

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
Wed Mar 29 2017
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Calcium, Magnesium and Phosphorous Levels in Serum of Iraqi Women with Fibromyalgia

         Fibromyalgia (FM) is a common, debilitating, and chronic pain syndrome. The women are more likely to have more tender points on examination than are their male counterparts. Iraqi study showed that FM occur in 1.5% among adolescents of Iraqi population. In compare to normal healthy women, present study was revealed that Iraqi women with FM have significant elevation of calcium (p = 0.003) with significant reduction of magnesium (p = 0.001), whereas the inorganic phosphorous was not differs (p = 0.31). In conclusion, magnesium and calcium would play a crucial role in etiopathogenesis of fibromyalgia.

Key words: calcium, magnesium, phosphorous, Fibromyalgia.

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Publication Date
Tue Nov 01 2022
Journal Name
Reports Of Biochemistry And Molecular Biology
Comparative Study of New Biomarkers in Iraqi DM2 with and without Complications

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Publication Date
Sun Jun 07 2015
Journal Name
Baghdad Science Journal
Study of Some Biochemical Parameters in Iraqi Children with Acute Lymphoblastic Leukemia

Leukemia or cancer of the blood is the most common childhood cancer, Acute lymphoblastic leukemia (ALL), is the most common form of leukemia that occurs in children. It is characterized by the presence of too many immature white blood cells in the child’s blood and bone marrow, Acute lymphoblastic leukemia can occur in adults too, treatment is different for children. Children with ALL develop symptoms related to infiltration of blasts in the bone marrow, lymphoid system, and extramedullary sites, such as the central nervous system (CNS). Common constitutional indications consist of fatigue (50%), pallor (25%), fever (60%), and weight loss (26%). Infiltration of blast cells in the marrow cavity and periosteum often lead to bone

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Publication Date
Tue Apr 30 2013
Journal Name
International Journal Of Microbiology Research
IDENTIFICATION AND TYPING OF Haemophilus influenzae IN IRAQI CHILDREN DIAGNOSED WITH MENINGITIS

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Publication Date
Sun Feb 02 2025
Journal Name
Al-rafidain Journal Of Medical Sciences ( Issn 2789-3219 )
Morphometric Evaluation of Lips in Iraqi Subjects with its Possible Esthetic Benefits

Objectives: to assess the normal range of different lip parameters with gender difference and its role in esthetic procedures for Iraqi people. Methods: direct lip measurements were performed with closed lip position using a digital vernier caliper in 132 young Iraqi subjects (89 female and 43 male). Results: Lip measurements showed sexual dimorphism with higher value in men than women in six parameters. Cutaneous height of the upper lip was higher in both sexes. The mustache area in males was longer in males compared to females.  Also, it was noticed that upper lip vertical thickness had a higher value, especially in subjects with cosmetic procedures. In addition to that, vertical upper lip thickness showed a higher rise in values

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Publication Date
Sun Jan 04 2015
Journal Name
Journal Of Educational And Psychological Researches
Smart thin king and its relation with cognitive (intuitive- Systematic) style among the university lecturers

Smart thinking requires a continuous flexible systeroatic  teaching in order that the lecturer can reach at easily, The Successful individuals in smart thin king are the most knowledgably with  it, where the cognitive (intuitive- systematic) style has common bases with another cognitive styles in many traits, and these two concepts are the core of theorization of the rost important cognitive styles. The present study aims to measure the Smart thinking among university lecturers according to sex variable and recognize the statistically differences significance in the level of cognitive (intuitive- systematic) style among the university lecturers according to sex variable and recognize the correlation between smart thinki

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Publication Date
Sun Sep 01 2019
Journal Name
American Journal Of Pharmaceutical Education
Quantitative and Qualitative Factors Associated with Social Isolation Among Graduate and Professional Health Science Students

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Publication Date
Tue Oct 05 2021
Journal Name
The Scientific World Journal
The Relation among Teeth and Maxillary Dental Arch Dimensions with Anterior Teeth Angulation and Inclination

Objectives. This study aimed at finding out whether anterior teeth angulation and inclination have a relationship with the maxillary teeth and dental arch dimensions. Methods. Fifty study models with normal occlusion were selected from the archive of the Department of Orthodontics at Baghdad Dental Faculty. Maxillary dental arch width and length at different points were determined in addition to measuring anterior teeth angulation, inclination, crown thickness, overjet, overbite, and Bolton’s ratios. The unpaired t-test and Pearson’s correlation coefficient test were used for data analysis. Results. No statistical gender differences were reported in all measurements except the dental arch widths and length where males had signif

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Publication Date
Sun Jun 09 2019
Journal Name
Al-kindy College Medical Journal
Partial Sequencing of IS1216V Transposase Gene of Staphylococcus Aureus Isolated from Food Samples

Background:  Insertion sequence is a short DNA sequence encode for proteins implicated in the transposition activity. Transposase  catalyzes the enzymatic reaction allowing the insertion sequence  to +9*lo2 move. ;qqa;.

Objective: To study the sequencing of transposase gene, tnp, IS1216V of S. aureus isolated from food and then compared with that documented in National Center for Biotechnology Information (NCBI).

Methods: Food samples of animal

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Publication Date
Mon Jan 30 2023
Journal Name
Iraqi Journal Of Science
Detection of mexB Multidrug Efflux Gene in Some Local Isolates of Pseudomonas aeruginosa

According to the prevalence of multidrug resistance bacteria, especially Pseudomonas aeruginosa, in which the essential mechanism of drug resistance is the ability to possess an efflux pump by which extrusion of antimicrobial agents usually occurs, this study aims to detect the presence of mexB multidrug efflux gene in some local isolates of this bacteria that show resistance towards three antibiotics, out of five. Sensitivity test to antibiotics was performed on all isolates by using meropenem (10μg/disc), imipenem (10μg/disc), amikacin (30 μg/disc), ciprofloxacin (5μg/disc) and ceftazidime (30 μg/disc). Conventional PCR results showed the presence of mexB gene (244bp) in four isolates out of ten (40%). In addition,25, 50μg/ml of cur

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