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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
Wed Jul 27 2022
Journal Name
International Journal Of Health Sciences
Detection of coxsackie virus B and measurement level of Tumor necrosis factor alpha in patients suffered in T1DM with coxsackie virus infection
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Objective. Infection with Coxsackie virus. This virus that damages pancreatic cells, has long been linked to the onset of insulin-dependent diabetic mellitus (IDDM). Pro-inflammatory cytokines can be produced as a result of this illness. Tumor necrosis factor-a is one of these pro-inflammatory cytokines. Materials and Methods. Blood sample were collected from 180 Iraqi participants. Ninety of them is type 1 diabetic patients and other 90 is healthy control .both groups were tested for the incidence of Coxsackie virus B IgG. So the patients groups is divided to two groups according to sero positivity of CVB-IgG .all 180 patients tested to measure of level of TNF-α. Results. The Results showed increasing in levels of TNF-α in CBV po

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Publication Date
Sat Sep 15 2018
Journal Name
Journal Of Baghdad College Of Dentistry
Evaluation of Hematocrit Level, Red Blood Cells and White Blood Cells Counts in Blood from Patients with Different Severities of Periodontal Diseases
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Background: Anemia of chronic disease (ACD) occurs in the presence of chronic infection, inflammatory conditions or neoplastic conditions despite of adequate iron and vitamins storage. Gingivitis is the inflammation of the gingiva, periodontitis is the inflammation in the periodontium that extend deeper with loss of connective tissue attachment and supporting bone. The main pathogenesis of periodontal diseases and ACD is immune activation. Aims of study: Determine and compare the clinical periodontal parameters (plaque index (PLI), gingival index (GI), bleeding on probing (BOP), probing pocket depth (PPD) and clinical attachment level (CAL)). Evaluate the hematocrit (Hct) level, red blood cells (RBCs) count and white blood cells (WBCs) c

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Publication Date
Sun May 30 2021
Journal Name
Indian Journal Of Forensic Medicine & Toxicology,
Effect of Diabetes and Hypertension on Right Carotid Artery Intima Media Thickness and Variable Spectral Waveform Indices And Parameters in Relation To Age for Iraqi Patients
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Background: Arterial stiffness is related with atherosclerosis and cardiovascular disease events. Patients with atherosclerotic disease show to have larger diameters, reduced arterial compliance and lower flow velocities. Aim of study : To compare between patients of two age groups with concomitant diseases diabetes and hypertension in regard to intima media thickness and blood flow characteristics in order to estimate the blood perfusion to the brain via the common and internal carotid arteries. Subject and Methods : 40 patients with (diabetic and hypertension) diseases were enrolled , they were classified according to age. Color Doppler and B mode ultrasound was used to determine lumen Diameter (D), Intima – media thickness (IMT)

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Scopus
Publication Date
Fri Feb 01 2019
Journal Name
Journal Of Economics And Administrative Sciences
The Influential Relationship of Environmental Analysis Processes in the Organization's Development Strategy An exploratory study of the views of a sample of the leaders of the Iraqi Ministry of Interior
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The study aims at diagnosing the importance of environmental analysis (external, industrial and internal) in the organization's strategy for the development of public organizations. The theoretical problem derived from the existence of a knowledge gap for studies and research that dealt with the variables of the study. Three public organizations were selected as the study society (the Civil Defense Directorate, the Directorate of Nationality, Passports and Residency, the General Traffic Directorate). The sample of the study was a sample of (215) managers (managers, department managers, Analysis of the data and hypothesis testing using the appropriate statistical tools, Pearson, the simple and multiple regression coefficient to te

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Publication Date
Sat Apr 01 2017
Journal Name
Diyala Journal For Pure Science
Determination of IL-35, PTH, Ferritin and Other biochemical parameters in sera of Iraqi Men with chronic kidney failure.
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Chronic kidney Failure, a progressive disease, includes both medical and biochemical features that damage kidneys and decrease their abilities to work effectively, this disease is characterized by a chronic disorders to both the innate and adaptive immune systems, generate a complex and not fully understood immune dysfunction. In the present study, (30) men suffering from chronic kidney failure with age in range (40-55) year and (30) healthy men within the same range of age were enrolled in this study. The aim of this study is to highlight the role of immunological aspect (IL-35), hormonal aspects (PTH), some functional proteins and immunological electrolytes in sera of chronic kidney failure (CKF) patients. Biochemical parameters were dete

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Publication Date
Tue Jul 08 2025
Journal Name
Journal Of Physical Education
Analytical study of Spiking and Its relation With Tactical Performance of Blockers in Iraqi Volleyball Primer League (2020 – 2021)
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Publication Date
Sun Sep 07 2014
Journal Name
Baghdad Science Journal
Detection of RAF fusion transcripts in FFPE samples of Medullablastoma and Ependymom in Iraqi children with RT-RQPCR assays
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Medulloblastomas and ependymomas are the most common malignant brain tumors in children. However genetic abnormalities associated with their development and prognosis remain unclear. Recently two gene fusions, KIAA1549–BRAF and SRGAP3–RAF1 have been detected in a number of brain tumours. We report here our development and validation of RT-RQPCR assays to detect various isoforms of these two fusion genes in formalin fixed paraffin embedded (FFPE) tissues of medulloblastoma and ependymoma. We examined these fusion genes in 44 paediatric brain tumours, 33 medulloblastomas and 11 ependymomas. We detected both fusion transcripts in 8/33, 5/33 SRGAP3 ex10/RAF1 ex10, and 3/33 KIAA1549 ex16/BRAF ex9, meduloblastomas but none in the 11 ep

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Publication Date
Wed Feb 01 2017
Journal Name
Iosr Journal Of Pharmacy And Biological Sciences
Role of Diffusion Weighted MRI in Evaluation of Urinary Bladder Cancer in Iraqi Patient in Correlation with Histopathological Grade.
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Publication Date
Sun Jan 01 2023
Journal Name
The Egyptian Journal Of Hospital Medicine
High Tumor Levels of Ki-67, VEGF and Endostatin Are Associated with Progression of Breast Cancer in Iraqi Women
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Publication Date
Tue Jan 03 2023
Journal Name
The Egyptian Journal Of Hospital Medicine
High Tumor Levels of Ki-67, VEGF and Endostatin Are Associated with Progression of Breast Cancer in Iraqi Women
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Background: Breast cancer (BC) is the most widespread cancer among women worldwide. Its incidence and mortality rates have risen in the previous three decades as a result of changes in risk factor profiles, improved cancer registry, and cancer detection. Objective: The study's goals were to establish if Ki-67 could be used as a potential marker in serum of cancer disease patients as well as their interaction with vascular endothelial growth factor (VEGF) and ES in various stages of breast cancer to assess their function in the progression of BC. Materials and Methods: The levels of Ki-67, VEGF and endostatin (ES) in serum were assessed by commercial enzyme linked immunosorbent assay (ELISA) kits in 60 women diagnosed with breast cancer

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