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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 Jan 01 2024
Journal Name
Farmacia
ASSOCIATION OF NFE2L2 GENE POLYMORPHISM (rs35652124) WITH DEVELOPMENT OF RETINOPATHY IN IRAQI TYPE 2 DIABETIC PATIENTS, IN RELATION TO VASCULAR ENDOTHELIAL GROWTH FACTOR AND ENDOCAN SERUM LEVELS
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Publication Date
Fri Dec 23 2022
Journal Name
F1000research
Association between polymorphisms within the gene coding for tumor necrosis factor (TNF)-alpha with outcomes of treatment in a sample of Iraqi patients with ankylosing spondylitis taking etanercept: an observational study
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Background:Ankylosing spondylitis (AS) is a progressive, chronic inflammatory illness with an unclear etiology that explicitly targets the vertebral column, peripheral joints, and extraarticular tissues. The purpose of this research was to investigate if the existence of single nucleotide polymorphisms (SNPs) in the promoter region of the tumor necrosis factor-alpha (TNF-α) gene at positions -1031T/C (rs199964), -857C/T (rs1799724) and -806C/T (rs4248158) in a sample of Iraqi AS patients could influence the patients' outcomes with etanercept.

Methods:Sixty patients with established AS receiving only etanercept were selected to enroll in this study, with a mean age of 40.75±8.6

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Publication Date
Thu May 28 2020
Journal Name
Iraqi Journal Of Science
The Association Between IL-2 Gene (RS2069763 (Single Nucleotide Polymorphism and Type 2 Diabetes Mellitus in Iraqi Patients
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This research attempts to find the association between single nucleotide polymorphism (SNP) of IL2+166 gene (rs2069763) and type 2 diabetes mellitus (T2DM) in a sample of Iraqi patients. A total of 44 patients and 55 apparently healthy volunteers were genotyped for the SNP using polymerase chain reaction test. Three genotypes (GG, GT, and TT) corresponding to two alleles (G and T) were found to have SNP. Both study groups’ genotypes had a good agreement for the analysis of Hardy-Weinberg Equilibrium. The results revealed increased frequencies between the observed and expected GG and TT genotypes and IL2+166 SNP T allele in T2DM  patients (40.9 vs. 40.0 %; OR = 1.04; 95% CI, 0.47 - 2.31), whereas the values in the control group were

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Publication Date
Fri Jan 01 2016
Journal Name
Diabetic Foot & Ankle
Risk factors for occurrence and recurrence of diabetic foot ulcers among Iraqi diabetic patients
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There are a few studies that discuss the medical causes for diabetic foot (DF) ulcerations in Iraq, one of them in Wasit province. The aim of our study was to analyze the medical, therapeutic, and patient risk factors for developing DF ulcerations among diabetic patients in Baghdad, Iraq.

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Publication Date
Fri Jan 01 2016
Journal Name
Diabetic Foot & Ankle
Risk factors for occurrence and recurrence of diabetic foot ulcers among Iraqi diabetic patients
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Publication Date
Fri May 25 2018
Journal Name
Open Public Health Journal
Comparative Study on the Clinicopathological Profiles of Breast Cancer Among Iraqi and British Patients
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Background: Breast cancer is the most common cancer in Iraq and the United Kingdom. While the disease is frequently diagnosed among middleaged Iraqi women at advanced stages accounting for the second cause of cancer-related deaths, breast cancer often affects elderly British women yielding the highest survival of all registered malignancies in the UK. Objective: To compare the clinical and pathological profiles of breast cancer among Iraqi and British women; correlating age at diagnosis with the tumor characteristics, receptor-defined biomarkers and phenotype patterns. Methods: This comparative retrospective study included the clinical and pathological characteristics of (1,940) consecutive female patients who were diagnosed with invasive b

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Publication Date
Wed Dec 12 2018
Journal Name
Iraqi National Journal Of Nursing Specialties
Barriers to Baseline Needs for Early Detection of Breast Cancer among Iraqi Female Patients
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Background: Breast Cancer is the most common malignancy among the Iraqi population; the majority of cases are still diagnosed at advanced stages with poor prospects of cure. Early detection through promoting public awareness is one of the promising tools in its control. Objectives: To evaluate the baseline needs for breast cancer awareness in Iraq through exploring level of knowledge, beliefs and behavior towards the disease and highlighting barriers to screening among a sample of Iraqi women complaining of breast cancer. Methodology: Two-hundred samples were enrolled in this study; gathered from the National

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Publication Date
Sat Feb 01 2020
Journal Name
Meta Gene
Interleukin-1 single nucleotide polymorphisms and risk of systemic lupus erythematosus among Iraqi patients
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Publication Date
Sun Jan 01 2017
Journal Name
Current Research In Microbiology And Biotechnology
Immunological and molecular detection of Helicobacter pylori in patients clinically diagnosed with chronic urticarial and atopic dermatitis
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To determine the relationship between Helicobacter pylori infection and skin disorders, sixty six patients who suffering from skin diseases include chronic urticarial (CU) and atopic dermatitis (AD) who attended at Dermatological Clinic/ Al-Numan Teaching Hospital from the beginning of October 2015 to the end of January 2016 with age (6-62) have been investigated and compared to twenty two samples of apparently healthy individuals were studied as control group. All the studied groups were subjected to measurement of antiHelicobacter pylori IgG antibodies by enzyme linked immuno sorbent assay (ELISA) and detection of 16S rRNA and CagA genes by using singleplex and multiplex PCR methods. The results of current study revealed that there was a

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Publication Date
Thu Mar 03 2022
Journal Name
Archives Of Rheumatology
Association of tumor necrosis factor-alpha promoter region gene polymorphism at positions -308G/A, -857C/T, and -863C/A with etanercept response in Iraqi rheumatoid arthritis patients
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Objectives: This study aims to evaluate the association between polymorphisms in the promoter region of the tumor necrosis factor-alpha (TNF-α) gene at locations -308G/A, -857C/T, and -863C/A with the tendency of being non-responder to etanercept.

Patients and methods: Between October 2020 and August 2021, a total of 80 patients (10 males, 70 females; mean age: 50 years; range, 30 to 72 years) with rheumatoid arthritis (RA) receiving etanercept for at least six months were included. The patients were divided into two groups responders and non-responders, based on their response after six months of continuous treatment. Following polymerase chain reac

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