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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
Mon Mar 01 2021
Journal Name
World Heart Journal
Change in Left Ventricular Size and Ejection Fraction in Patients at Rest vs. Stress with Different Degrees of Ischemic Heart Failure
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Background and Aim. Coronary artery disease (CAD) is a major risk factor for the progression to heart failure (HF), which is associated with an increase in left ventricular volume (LVV). This study aims to measure ventricular function and myocardial perfusion imaging markers of the left side of the heart, which can be performed with injection of a 99mTc at stress and rest by using single-photonemission-computed-tomography (SPECT). Subject and methods. The study included 121 patients with CAD, comprising 53 females and 68 males with ages between 25 to 88 years and 265 healthy subjects comprising 84 males and 181 females. All patients and healthy subjects volunteered to participate in this study. They were classified according to

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Publication Date
Fri Jan 01 2021
Journal Name
Brazilian Dental Science
Assessing the level and diagnostic accuracy of osteopontin and oral health status in periodontitis patients with/without Type-2 Diabetes Mellitus
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Publication Date
Mon Jul 01 2024
Journal Name
Journal Of The Faculty Of Medicine Baghdad
The Burden of Chronic Obstructive Pulmonary Disease COPD in Stable Patients and its Association with Inflammatory Biomarkers and Body Mass Index
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Background: Chronic obstructive pulmonary disease (COPD) is a progressive airflow limitation that is preventable but not curable. It is associated with persistent symptoms that cause a considerable burden on individual productivity at work, and daily activities, and reduced quality of life, also burdening the healthcare system and society. Objectives: The study aims to measure the burden of COPD on patients in terms of daily activities and work productivity. It also seeks to investigate some inflammatory biomarkers' levels and their correlation with selected outcomes. Patients and Methods: A cross-sectional study on 120 stable COPD patients who were diagnosed and treated according to the GOLD guidelines at Kirkuk General Hospital's

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Publication Date
Fri Dec 01 2023
Journal Name
Iop Conference Series: Earth And Environmental Science
Influence of Water Stress on Expression of the X95950 Gene and Several Cellular Callus Components in Violet-Treated Sunflower Varieties
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Abstract<p>The research was conducted between 2017 and 2019 at the College of Agricultural Engineering Sciences and Laboratory of Plant Tissue Culture for Postgraduate Studies at the University of Baghdad. One experiment used a totally random design. The experiment examined the effects of PEG (Polyethylene glycol) at concentrations of 0, 2, 4, 6, and 8% on the development of three sunflower types (Ishaqi<sup>-1</sup>, Aqmar, and AL-Haja) exposed to UV-C rays for 40 minutes as a result of the growing of the juvenile peduncle outside the live body. The aim of the study was to better comprehend the physiological and biochemical changes caused by water stress on the callus of several sunfl</p> ... Show More
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Publication Date
Fri Jan 01 2021
Journal Name
Aip Conference Proceedings
Plasma levels and diagnostic utility of MMP-2 and TIMP-2 in the diagnosis of Iraqi women with breast tumor: A comparative study with Ca 15-3
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Publication Date
Fri Jan 01 2021
Journal Name
Aip Conference Proceedings
Plasma levels and diagnostic utility of MMP-2 and TIMP-2 in the diagnosis of Iraqi women with breast tumor: A comparative study with Ca 15-3
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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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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
Wed Nov 05 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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