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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
Thu Jan 01 2015
Journal Name
Journal Of Biotechnology Research Center
Evaluation of anti Epstien-Barr Virus antibodies in female patients with autoimmune hepatitis type-1
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Epstein-Barr Virus (EBV) infection is associated with broad spectrum of clinical manifestationsdepending on the immune status of the host, To analyze their possible role in the complication ofautoimmune hepatitis, we investigated (30) female patients with autoimmune hepatitis type-1 of(10-40)years and 25 healthy female of same ages(control groups). Both groups were carried outto measure the levels of EBV-CA IgM, IgG Ab, EBV-EA IgM, IgG Ab, and EBV-NA IgM, IgGAb using indirect immunoflourescent assay (IFAT).The prevalence of EBV-CA IgM, IgG Ab were(10%,20%) and EBV-EA IgM, IgG Ab were (10% and20%) respectively, while the prevalence ofEBV-NA IgG Ab was( 3.33%) and there are no prevalence of EBV-NA IgM Ab. There weresignificant differences (P

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Publication Date
Thu Jan 01 2015
Journal Name
Health
Evaluation of Myocardial Performance in Hypertensive Patients with Type 2 Diabetes and Normal Ejection Fraction
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Publication Date
Thu Mar 30 2017
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
The Role of Chloroquine Phosphate on Acute Phase Reactant Proteins in Patients with Knee Osteoarthritis
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The acute phase response is a major pathophysiologic phenomenon that accompanies inflammation whether acute or chronic. Complement (C3 and C4) and C - reactive protein (CRP) are positive acute phase proteins (+ ve APPs ). Their production takes place in hepatocyte and the blood concentration of these parameters are increased in osteoarthritis (OA). Chloroquine (CQ) is a diprotic weak base traditionally used to treat malaria. Recently the phosphate salt of CQ is used to decrease this type of (+ve APPs) . In this study,  patients who suffered from knee osteoarthritis (KOA) are treated with oral dosage form of chloroquine phosphate (CQP) for one month, twice daily. Our results demonstrate that CQP improves the patient status by decreas

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Publication Date
Wed Jan 30 2013
Journal Name
Al-kindy College Medical Journal
Coronary angiogriphy in left ventricular dysfunction patients with no clinical evidence of ischemic heart disease
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Background : Coronary artery disease is theunderlying cause in approximately two thirds of
patients with systolic heart failure ;
Coronary artery angiogriphy may be useful to
define the presence ,
Anatomical characteristics ,and functional
significance of Coronary artery disease in
selected heart failure patients with or without signs
and aymptoms of Coronary artery disease.
Objectives: to verify the clinical usefulness of
coronary angiography (CA) in congestive heart
failure (CHF) patients with no history of ischemic
heart disease and to identify predictive factors for
performing coronary angiography to patients with
congestive heart failure with no obvious ischemia.
Methods :this is a cross-ses

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Publication Date
Thu Jan 30 2014
Journal Name
Al-kindy College Medical Journal
THE PREVALENCE AND ANTIMICROBIAL RESISTANCE OF PSEUDOMONAS SPECIES IN PATIENTS WITH CHRONIC SUPPURATIVE OTITIS MEDIA
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Background: Chronic suppurative otitis media (CSOM) is the result of aninitial episode of acute otitis media and is characterized by a persistent discharge from the middle ear through a tympanic perforation for at least 2 weeks duration. It is an important cause of preventable hearing loss, particularly in the developing world.Methods. 1. To get an overview on the bacterial ear infection profile in general 2. To assess the antibiotic resistance of Pseudomonal infection (PS) particularly since it is usually the commonest infection to cause otitis media and the most difficult to treat due to the problem of multi drug resistance... A cross sectional study was done which included 405 patient of CSOM patients196 (48%) case were males ,209 (52

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Publication Date
Thu Dec 10 2009
Journal Name
Iraqi Journal Of Laser
Diagnosis and Treatment of Cervical Intraepithelial Neoplasia with Carbon Dioxide Laser Therapy in Selected Patients
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Female infection with HPV (human papilla virus) has been established as an essential cause of CIN (cervical intraepithelial neoplasia). The danger of transformation from CIN to frank malignancy should be considered. Objective: The goal of this study is to evaluate the effectiveness of CO2 laser vaporization of ectocervical lesion high grade squamous intraepithelial lesion (HGSIL). Patients and Methods: Four Female out of 150 affected with HGSIL lesions were submitted to CO2 laser vaporization and followed up in 4 months later, and 10 women with HGSIL lesion submitted to electrocautery diathermy for the comparison. Results: Among women treated by CO2 laser vaporization, 3 women had negative results (clear cervix), at 4 months follow up; o

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Publication Date
Tue Jun 30 2015
Journal Name
Al-kindy College Medical Journal
The prevalence and antimicrobial resistance of Pseudomonas species in patients with chronic suppurative otitis media
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Background: Chronic suppurative otitis media (CSOM) is the result of an initial episode of acute otitis media and is characterized by a persistent discharge from the middle ear through a tympanic perforation for at least 2 weeks duration. It is an important cause of preventable hearing loss, particularly in the developing world.Objective: To get an overview on the bacterial ear infection profile in general and to assess the antibiotic resistance of Pseudomonal infection (PS) particularly since it is usually the commonest infection to cause otitis media and the most difficult to treat due to the problem of multi drug resistance..Methods: A cross sectional study was done which included 405 patients of CSOM patients, 196 (48%) case were mal

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Publication Date
Mon Sep 04 2023
Journal Name
Al-rafidain Journal Of Medical Sciences ( Issn 2789-3219 )
Factors Influencing Adalimumab Treatment Response in Patients with Rheumatoid Arthritis: The Future of Clinical Expertise
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Rheumatoid arthritis (RA) is characterized by persistent joint inflammation, which is a defining feature of this chronic inflammatory condition. Considerable advancements have been made in the field of disease-modifying anti-rheumatic medicines (DMARDs), which effectively mitigate inflammation and forestall further joint deterioration. Anti-tumor necrosis factor-alpha (TNF-α) drugs, which are a class of biological DMARDs (bDMARDs), have been efficaciously employed in the treatment of RA in recent times Adalimumab, a TNF inhibitor, has demonstrated significant efficacy in reducing disease symptoms and halting disease progression in patients with RA. However, its use is associated with major side effects and high costs. In addition,

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Publication Date
Sun Mar 26 2017
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Measurement of Serum Trace Elements (Zinc, Copper, Magnesium and Iron) Concentrations in Pediatric Patients with Otitis Media with Effusion in Iraq
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Otitis media with effusion (OME) is a common disease especially among young children (before school age) and it is one of the common causes of acquired hearing loss in childhood. Pediatric patients with OME are usually undernourished. The purpose of this study is to determine whether the serum levels of trace elements (zinc, copper, magnesium, iron) have a role in the development of OME in children. This study carried out on 55 children and subdivided them into two groups. Group 1 (patient group) consist of 30 children suffering from OME and group 2 (control group) included 25 apparently healthy children. Serum levels of zinc, copper, magnesium and iron were measured for both groups. Comparison the results between the two groups showed t

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Publication Date
Thu Jun 10 2021
Journal Name
Engineering, Technology & Applied Science Research
Corruption Risk Analysis at the Project Planning Stage in the Iraqi Construction Sector using the Bowtie Methodology
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In this paper, the bowtie method was utilized by a multidisciplinary team in the Federal Board of Supreme Audit (FBSA)for the purpose of managing corruption risks threatening the Iraqi construction sector. Corruption in Iraq is a widespread phenomenon that threatens to degrade society and halt the wheel of economic development, so it must be reduced through appropriate strategies. A total of eleven corruption risks have been identified by the involved parties in corruption and were analyzed by using probability and impact matrix and their priority has been ranked. Bowtie analysis was conducted on four factors with high score risk in causing corruption in the planning stage. The number and effectiveness of the existing proactive meas

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