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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 Jul 01 2024
Journal Name
Journal Of The Faculty Of Medicine Baghdad
Serum CXCL 9 as a Potential Biomarker for Patients with Ulcerative Colitis
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Background: Ulcerative colitis (UC) is an inflammatory bowel disease restricted to the large intestine, characterized by superficial ulceration. It is a progressive and chronic disease requiring long-term treatment. Although its etiology remains unknown, it is suggested that environmental factors influence genetically susceptible individuals, leading to the onset of the disease. (C-X-C) ligand 9 is a chemokine that belongs to the CXC chemokine family, it plays a role in the differentiation of immune cells such as cytotoxic lymphocytes, natural killer T cells, and macrophages. Its interaction with its corresponding receptor CXCR3 which is expressed by a variety of cells such as effector T cells, CD8+ cytotoxic T cells, and macrophage

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Publication Date
Sun Jan 01 2023
Journal Name
Česká A Slovenská Farmacie
Hyperferritinemia as a factor associated with poor prognosis in COVID-19 patients
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Worldwide, hundreds of millions of people have been infected with COVID-19 since December 2019; however, about 20% or less developed severe symptoms. The main aim of the current study was to  assess  the  relationship  between  the  severity of Covid-19 and different clinical and laboratory parameters. A total number of 466 Arabs have willingly joined this prospective cohort. Out of the total number, 297 subjects (63.7%) had negative COVID-19 tests, and thus, they were recruited as controls, while 169 subjects (36.3%) who tested positive for COVID-19 were enrolled as cases. Out of the total number of COVID-19 patients, 127 (75.15%) presented with mild symptoms, and 42 (24.85%) had severe symptoms. The age range for the partic

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Publication Date
Fri Jan 01 2010
Journal Name
Iraqi Journal Of Biotechnology
BIOCHEMICAL STUDY ON SUPEROXIDE DISMUTASE ENZYME IN PATIENTS WITH DIFFERENT BRAIN TUMORS
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The aim of the current study is to in evaluate the role of SOD activity in the previously reported oxidative stress in our laboratory(1), in the patients with different brain tumors. SOD activity was assayed according to riboflavin/NBT method and its specific activity was calculated in patients with benign and malignant brain tumors and control. Moreover the specific activity was compared in these samples according to gender and the occurrence of disease.Non significant elevation (P > 0.05) in SOD specific activity was observed in tissue of malignant tumors in comparison to that of in benign brain tumors. While a highly significant decrease (P < 0.001) of the specific activity was found in sera of malignant patients group in comparison to t

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Publication Date
Tue Nov 06 2018
Journal Name
Iraqi National Journal Of Nursing Specialties
Lipid Profile and Insulin Resistance in Patients with Type-ΙΙ Diabetes Mellitus
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Objective: To investigate the relation between dyslipidemia and insulin resistance where it is one of the metabolic
disorders in patients with type-ΙΙ diabetes mellitus and compare the results with the control group.
Methodology: Blood samples were collected from (35) patients with type-ΙΙ diabetes mellitus, besides (35) healthy
individuals as a control group were enrolled in this study. The age of all subjects range from (20-50). Serum was
used in determination of glucose, insulin, lipid profile (cholesterol (Ch), triglyceride (TG), high-density lipoprotein
(HDL-Ch), low-density lipoprotein (LDL-Ch) and very low-density lipoprotein (VLDL), for patients and control
groups. Insulin resistance (IR) was calculated acco

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Publication Date
Sat Dec 01 2018
Journal Name
Annals Of Medicine And Surgery
Plasma d-dimer level correlated with advanced breast carcinoma in female patients
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Publication Date
Mon Apr 20 2026
Journal Name
Global Journal Of Health Science
Serum Vitamin and Mineral Profiles in Patients with Hypothyroidism-Associated Hair Loss
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Background: Hair loss is a frequent and distressing manifestation among patients with hypothyroidism. In addition to thyroid hormone imbalance, deficiencies in vitamins and minerals may contribute to impaired hair follicle function. Objective: This study aimed to assess serum vitamin and mineral profiles in patients with hypothyroidism-associated hair loss and to explore their relationship with thyroid hormone status. Methods: the study was conducted on a total of 90 participants, including 65 patients diagnosed with hypothyroidism-associated hair loss, 25 control - and sex-matched apparently healthy control subjects, groups aged 30 and over. Serum levels of vitamin D3, vitamin B12, zinc, iron, ferritin, calcium, magnesium, th

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Publication Date
Tue Jan 21 2025
Journal Name
Procedia Environmental Science, Engineering And Management
Optimizing Radiofrequency Parameters for Effective Lesion Formation in Patients with Supraventricular Tachycardia
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Radiofrequency catheter ablation is now widely recognized as a primary treatment for a range of arrhythmias and serves as the first-line therapy fo...

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Scopus
Publication Date
Tue Dec 05 2023
Journal Name
Engineering, Technology &amp; Applied Science Research
Theoretical Analysis of Composite RC Beams with Pultruded GFRP Beams subjected to Impact Loading
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Glass Fiber Reinforced Polymer (GFRP) beams have gained attention due to their promising mechanical properties and potential for structural applications. Combining GFRP core and encasing materials creates a composite beam with superior mechanical properties. This paper describes the testing encased GFRP beams as composite Reinforced Concrete (RC) beams under low-velocity impact load. Theoretical analysis was used with practical results to simulate the tested beams' behavior and predict the generated energies during the impact loading. The impact response was investigated using repeated drops of 42.5 kg falling mass from various heights. An analysis was performed using accelerometer readings to calculate the generalized inertial load. The in

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Publication Date
Mon Feb 02 2015
Journal Name
Journal Of Engineering, University Of Baghdad
'Impact Analysis of Reinforced Concrete Columns with Side Openings Subjected to Eccentric Axial Loads
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Publication Date
Sat Dec 01 2012
Journal Name
Journal Of Economics And Administrative Sciences
Relationship and impact of the Analysis and evaluation jobs with employees performance : Survey study
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        The aim the research that definition on the impact a lot of Analysis and evaluation jobs impact in support the employees performance the property that are Analysis and evaluation jobs is one of the jobs however of the human resource management on organization and the impact footpace big on the chractericties and performance of the people and the impact that success of the organization , And here problem stool of the research in the omission the role for the Analysis and evaluation jobs impact in support the employees performance from the upward management in the organization , Polls were adopted as tools for obtaining data and the Depart

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