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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 Jan 01 2012
Journal Name
مجلة الهندسة والتكنولوجيا
Histopathological Effects of Burkholderia Mallei Isolated from Patients with Wound Infections on Mice
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Publication Date
Fri Nov 09 2018
Journal Name
Iraqi National Journal Of Nursing Specialties
Assessment of stressful life events for patients with substance abuse in Baghdad city
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Objective: The present study aims to assess the stressful life events for patients with substance abuse in Baghdad city.
Methodology: A descriptive study was carried out at (Baghdad teaching hospital and Ibn-Rushed Psychiatric hospital).
Starting from 1
st of December 2012 to 3
rd of July 2013, A non-probability (purposive) sample of 64 patients that
diagnosed with substance abuse, the data were collected through the use of semi-structured interview by
questionnaire, which consists of three parts sociodemographic data, medical information, and Life events scale
consists of 49-items distributed to six domains including, family and social domain, health domain, security, legal and
criminal domain, work and school do

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Publication Date
Thu Jan 30 2014
Journal Name
Al-kindy College Medical Journal
Orbital Hydatid Disease: A case study of young patients with primary orbital lesion
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Background:This is a prospective study of three children presented to us in the Orbital clinic in AL ShahidGazi Al Hariri Hospital with painless proptosiswith suspension of Hydatid disease.Objectives: : Orbital hydatid disease is a rare lesion accounting for less than 1% of the total lesions of the body (1, 2). Orbital cysts presented as a primary lesion in our study which is rare to have such lesion without involvement of other organs (3). Humans represent the intermediate host where the commonly affected organ are liver and the lung (10-15%) (4). Methods:This is a prospective study of three Children presented to us in the Orbital clinic in Al Shahid Ghazi Alhariri Hospital with painless proptosis with suspension of Hydatid disease, dep

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Publication Date
Fri Jun 15 2018
Journal Name
Journal Of Baghdad College Of Dentistry
Periodontal health status of patients with Maxillary Chronic Rhinosinusitis (Part 1: Clinical study)
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Background: Periodontal diseases (PD) are inflammatory conditions of the tissues supporting the teeth, most often gingivitis and periodontitis. Maxillary chronic rhinosinusitis (MCRS) is the inflammation of the maxillary sinuses which is last for at least 12 consecutive weeks duration. Aims of study: Distribution of periodontal diseases among patients with Maxillary chronic rhinosinusitis according to gender and age. Materials and methods: Males and females subjects (25-45 years), divided into two groups; 150 patients suffer from MCRS and 130 subjects without MCRS. Clinical periodontal parameters; Plaque Index (PL.I), Gingival Index (G.I), Probing Pocket Depth (PPD), Clinical Attachment Level (CAL) and Bleeding On Probing (BOP) recorded f

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Publication Date
Wed Oct 24 2018
Journal Name
Al-kindy College Medical Journal
Echocardiographic assessment of Left Ventricular Dyssynchrony in Hypertensive Patients with Normal Systolic Function
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Background: Normal Left Ventricular systolic function is present in nearly 50% of patients with congestive heart failure, the majority of such patients have systemic hypertension. Recent studies have demonstrated Left Ventricular dyssynchrony among patients with heart failure and normal systolic function. The co-existence between Left Ventricular dyssynchrony and hypertension with normal systolic function (with no clinical evidence of heart failure) is less well understood.

Objective:

To assess the Left Ventricular dyssynchrony among hypertensive patients with normal systolic function by using Tissue doppler imaging.To find out the associations between the LV dyssynchrony and other global

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Publication Date
Sat Mar 15 2025
Journal Name
Journal Of Baghdad College Of Dentistry
Assessment of serum and salivary ceruloplasmin level in patients with oral lichen planus
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Background: Oxidative stress is a deleterious process that can be an important mediator of damage to cell structures and consequently various disease states. Exposure to free radicals from a variety of sources has led organisms to produce a series of defense mechanisms. The antioxidant ceruloplasmin is a copper-containing ferroxidase that can oxidize ferrous iron (Fe2+) to its nontoxic ferric (Fe3+) form. Ferrous iron (Fe2+) is extremely damaging because of its ability to generate toxic free radicals. Oral lichen planus (OLP) is a chronic inflammatory oral mucosal disease of unknown etiology. Previous studies reported that reactive oxygen species may be involved in the pathogenesis of lichen planus. The aim of this study was to estimate the

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Publication Date
Sun Jun 30 2013
Journal Name
Al-kindy College Medical Journal
Clinical and Doppler Study of Restrictive Filling Pattern in Patients with Dilated Cardiomyopathy
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Background: Dilated cardiomyopathy (DCM) is a well-recognized cause of cardiovascular morbidity and mortality.Objectives: To evaluate the prognostic implications of the restrictive left ventricular filling pattern (RFP) in dilated cardiomyopathy.Methods: Patients with DCM admitted to Ibn AL-Bitar Hospital for Cardiac Surgery, Baghdad-Iraq, from May 2006 to August 2008, underwent a full clinical evaluation and Doppler echocardiography study. Patients were classified into three groups: Group I had persistent restrictive filling pattern; Group II had reversible restrictive filling pattern; and Group III had nonrestrictive filling pattern. Results: The current study was conducted on a total number of 80 patients with DCM, fifty (62.5 %) were

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Publication Date
Mon Feb 01 2010
Journal Name
Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, And Endodontology
Oral Candida flora in a group of Jordanian patients with β-thalassemia major
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Objective Thalassemic patients present with multiple immune abnormalities that may predispose them to oral Candida, however this has not been investigated. The aim of this study was to assess oral candidal colonization in a group of patients with β-thalassemia major both qualitatively and quantitatively. Study design The oral mycologic flora of 50 β-thalassemia major patients and 50 age- and sex-matched control subjects was assessed using the concentrated oral rinse technique. Candida species were identified using the germ tube test and the Vitek yeast identification system. Results Oral Candida was isolated from 37 patients (74%) and 28 healthy subjects (56%; P = .04). The mean candidal count was significantly higher in thalassemic patie

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Publication Date
Tue Jul 23 2024
Journal Name
Haya: The Saudi Journal Of Life Sciences
Levels of Interleukin - 40 and Lipid Profile in patients with Helicobacter pylori Infection
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The study was carried out to detection of H.pylori in (200) patients who attended two teaching hospitals in Baghdad. The diagnosis done by Immunochromatography methods. Stools and blood samples was taken from each patient as well as other (30) healthy control matching in their age. The study included detection the Levels of Interleukin-40 and CRP in sera of patients and control. The result indicated presence of H pylori antigen in 115 cases 59 cases of males and 51 of females, Also, the result indicated increasing levels of IL-40, cholesterol, Triglycerides, Low density lipoprotein, Very Low density lipoprotein increased significantly while the level of High density lipoprotein decreased in patients sera in comparison with healthy c

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Publication Date
Sat Oct 01 2022
Journal Name
The Egyptian Rheumatologist
Interleukin-22 is up-regulated in serum of male patients with ankylosing spondylitis
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