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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
The Iranian Journal Of Medical Sciences
Association between Methylenetetrahydrofolate Reductase (MTHFR( and 5-Methyltetrahydrofolate- Homocysteine Methyltransferase Reductase (MTRR) Polymorphisms in Iraqi Patients with COVID-19
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Publication Date
Thu Dec 01 2016
Journal Name
Karbala Journal Of Medicine
Assessment Of Her-2/Neu Gene Amplification Status by Chromogenic in Situ Hybridization in Breast Cancer Patients with Equivocal 2+ Her-2/Neu Immunostaining and Its Relation to The Clinic Pathological Parameters
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background: human epidermal growth factor receptor-2 (her2/neu) is related to growth factor receptors with alkaline kinase activity and it is regarded as important prognostic and therapeutic factor that can depended on in breast cancer therapy. HER2/neu expression by immunohistochemistry (IHC) is submitted to a great in terob server inconsistency. Subsequently additional confirmatory tests for assessment of gene alterations and amplification status are needed for patients with early or metastatic breast cancer. In situ hybridization techniques and specifically Chromogenic in situ hybridization (CISH) was arise as a practical, cost-effective, and alternative to fluorescent in situ hybridization in testing for gene alterationAims of the study

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Publication Date
Thu Jun 01 2017
Journal Name
Karbala International Journal Of Modern Science
The prevalence of Giardia lamblia and Entamoeba histolytica/dispar among Iraqi provinces
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Crossref (8)
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Publication Date
Fri Feb 28 2025
Journal Name
Moroccan Journal Of Chemistry
Design, Synthesis, and Biological Evaluation of new sulfonamides derived from 2-Aminopyridine: Molecular docking, POM analysis, and identification of the pharmacophore sites
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New series of imidazole[1,2-a]pyridine-sulfonamides was designed and synthesized from 2-aminopyridine, which was reacted with p-bromo phenacyl bromide in the present of MgO to produce the corresponding imidazole[1,2-a]pyridine, which was then reacted with chlorosulfonic acid to produce 2-(4-bromophenyl)imidazole[1,2-a]pyridine-3-sulfonyl chloride [2]. Following that, treatment of (2) with different amines using the grand method to generate imidazole [1,2-a] pyridine sulfonamides. All the synthesized compounds have been characterized by FTIR, 1HNMR and 13CNMR and C.H.N analysis. The DFT, POM analysis and molecular docking were carried out on for all final compounds to investigate drug like attributes, and the results revealed showed that the

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Publication Date
Wed Oct 18 2023
Journal Name
Iraqi National Journal Of Nursing Specialties
Assessment of Patients’ Compliance with Essential Hypertension
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Objective:
This study aims to asses the patients' compliance with essential hypertension in respect to antihypertensive
medications, follow-up, dietary pattern and health habits, to identify the associated long-term complications, and
to find out the relationship between patient's compliance, and demographic characteristics such as age, gender,
level of education, and duration of disease.
Methodology:
A descriptive study was carried out in Nasiriyah Teaching Hospital to achieve presented objectives .
Results:
The results of the study revealed that there were a significant association between educational level and total
patient's compliance, a significant association was found between the duration of disease and

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Publication Date
Fri Nov 09 2018
Journal Name
Iraqi National Journal Of Nursing Specialties
Psychological Problems of Patients with Colorectal Cancer
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Objective: Assessment the psychological problems in patients with colorectal cancer, and to find out the
relationship between socio-demographic characteristics such as (age, sex, marital status, educational level,
and occupation) and psychological problems for those patients.
Methodology: A descriptive design is employed through the present study from 1
st July 2011 to 25
th December
2011 in order to study the quality of life in colorectal cancer patients with psychological problems.
A purposive (non probability) sample is selected for the study which includes (60) patients diagnosed with
colorectal cancer were treated in Mosul Oncology and Nuclear Medicine hospital or the patients who visited
the outpatient cl

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Publication Date
Sun Nov 04 2018
Journal Name
Iraqi National Journal Of Nursing Specialties
Assessment of Patients’ Compliance with Essential Hypertension
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Objective:
This study aims to asses the patients' compliance with essential hypertension in respect to antihypertensive
medications, follow-up, dietary pattern and health habits, to identify the associated long-term complications, and
to find out the relationship between patient's compliance, and demographic characteristics such as age, gender,
level of education, and duration of disease.
Methodology:
A descriptive study was carried out in Nasiriyah Teaching Hospital to achieve presented objectives .
Results:
The results of the study revealed that there were a significant association between educational level and total
patient's compliance, a significant association was found between the duration of disease and

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Publication Date
Sun Jun 30 2013
Journal Name
Al-kindy College Medical Journal
Evaluation of Etiological Causes of Hypothyroidism among Patients Visiting Specialized Center for Diabetes and Endocrinology
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Background: Many structural or functional abnormalities can impair the production of thyroid hormones and cause hypothyroidism.Objectives: to identify the main etiological causes of hypothyroidism among patients visiting Specialized Center for Diabetes and Endocrinology.Methods: This study was conducted in the Specialized Center for Diabetes and Endocrinology on 217 patients with proved hypothyroidism, from 2006 to 2008. Every patient was tested with thyroid function tests, Ultrasound examination, thyroid autoantibodies, fine needle aspiration, radiology of skull, isotopes scan, also checking adrenal and gonadal function. Results: Out of these 217 patients 120 patients have thyroiditis 33 patients had been undergone thyroidectomy. 39 pat

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Publication Date
Sun Jan 01 2023
Journal Name
The Egyptian Journal Of Hospital Medicine
Effect of Radioactive Iodine Therapy on Interleukin-2 (IL-2), IL-17 and Physiological Parameters in Iraqi Patients with Graves’ Disease
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Publication Date
Mon May 02 2022
Journal Name
Journal Of Research In Medical And Dental Science
Compression study of Irisin, Vitamin D and Kidney Function Parameters Between Iraqi Fracture Patients with and Without DM2 and Healthy Control
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Compression study of Irisin, Vitamin D and Kidney Function Parameters Between Iraqi Fracture Patients with and Without DM2 and Healthy Control, Omar Yousif Majnun*, Altaie AF

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