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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 Jan 01 2020
Journal Name
Journal Of Biotechnology Research Center
Molecular screening of the entA gene of Enterococcus faecium isolated from Food and clinical sources
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Background: The microbial production of substances that have the potency to suppress the growth of other microorganisms is probably one of the prevalent defense strategy developed in nature, microorganisms produce a variable bunch of microbial defense systems, which include antibiotics, metabolic by-products, lytic agents, bacteriocins and others. Objective: The purpose of the present study was to isolate and identify Enterococcus faecium isolates then detecting its ability of carrying the gene responsible for enterocin production in this species. Materials and methods: Out of 50 samples from different sources (food and clinical sources) were collected for the Enterococcus faecium isolation, and the isolated bacteria Enterococ

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Publication Date
Mon Jun 26 2023
Journal Name
Journal Of Contemporary Medical Sciences
Molecular detection of mononucleotide biomarkers of microsatellite instability in sporadic colorectal carcinoma patients with clinicopathological correlation
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Objectives: To identify the frequency and types of microsatellite instability among a group of sporadic CRC patients and to correlate the findings with clinicopathological characteristics. Methods: During an 8-month period, all patients with sporadic CRC who attended to two teaching hospitals in Baghdad, Iraq were recruited to this cross-sectional study regardless of age, sex, ethnicity, or tumor characteristics. Demographic, clinical, and histopathological features were recorded. DNA was extracted from FFPE-blocks of the resected tumors and normal tissues. PCR amplification of five microsatellite mononucleotide repeat loci (BAT25, BAT26, NR-21, NR-24, and MONO-27) and 2 pentanucleotide repeat control markers (Penta C and Pent

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Publication Date
Sun Nov 04 2018
Journal Name
Iraqi National Journal Of Nursing Specialties
Effect of Iodine Overdose on Thyroid Hyperplasia
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Objectives: study the relation between the effect of time (long time duration) with high concentration of iodine
and study its effect on the activity of the thyroid gland (hormonal and histological changes).
Methodology: An experimental study was done on (30) albino rats (8 weeks of age) to know the effect of high
concentration of iodine on the activity of the thyroid gland (hormonal and histological changes) related with
time. The study last for six months for the period of 1/2/2007 to 31/7/2007, the experiment was carried out in the
research lab. of pathology department, College of Medicine, University of Baghdad.
Results: The study shows changes in hormonal levels of thyroid hormones (T3 & T4) and also histologic

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Publication Date
Sun Oct 29 2023
Journal Name
Iraqi National Journal Of Nursing Specialties
Effect of Iodine Overdose on Thyroid Hyperplasia
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Objectives: study the relation between the effect of time (long time duration) with high concentration of iodine
and study its effect on the activity of the thyroid gland (homonal and histological changes).
Methodology: An experimental study was done on (30) albino rats (8 weeks of age) to know the effect of high
concentration of iodine on the activity of the thyroid gland aiormonal and histological changes) related with
time. The study last for six months for the period of I/2/2007 to 31/7/2007, the experiment was carried out in the
research lab. of pathology deparment, College of Medicine, University of Baghdad.
Results: The study shows changes in homonal levels of thyroid hormones (T3 & T4) and also histological<

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Publication Date
Tue Jul 02 2024
Journal Name
Scientific Reports
Impact of MTHFR gene polymorphism on the outcome of methotrexate treatment in a sample of Iraqi rheumatoid arthritis patients
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Abstract<p>Analyze the relationship between genetic variations in the MTHFR gene at SNPs (rs1801131 and rs1801133) and the therapy outcomes for Iraqi patients with rheumatoid arthritis (RA). The study was conducted on a cohort of 95 RA Iraqi patients. Based on their treatment response, the cohort was divided into two groups: the responder (47 patients) and the nonresponder (48 patients), identified after at least three months of methotrexate (MTX) treatment. A polymerase chain reaction-restriction fragment length polymorphism (PCR–RFLP) technique was employed to analyze the MTHFR variations, specifically at rs1801133 and rs1801131. Overall, rs1801131 followed both codominant and dominate models, in which in </p> ... Show More
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Publication Date
Thu Feb 01 2018
Journal Name
Human Immunology
Cytokine gene polymorphisms in Iraqi Arabs
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Publication Date
Mon Feb 01 2021
Journal Name
Meta Gene
Evaluation of interleukin-9 serum level and gene polymorphism in a sample of Iraqi type 2 diabetic mellitus patients
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Background: Diabetic mellitus (DM) is a collection of metabolic disorder identified by hyperglycemia. The heterogeneous etiology includes defects either in insulin secretion, or in insulin action, or the both. In addition to the distraction in carbohydrate, fat and protein metabolism. Inflammatory reaction that caused by many pro-inflammatory cytokines play a central role in the pathogenicity of T2DM, these cytokines can enhance insulin resistance which led to impaired glucose homeostasis. Subjects: The study included 75 patients (38 males and 37 females) suffering from T2DM with age mean ± SE 52.30 ± 1.60, and 70 individuals as healthy controls (35 males and 35 females) with age mean ± SE 48.88 ± 0.64. Evaluation of immunological marke

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Publication Date
Tue Dec 30 2025
Journal Name
Farmacia
PHARMACOGENOMIC INSIGHTS INTO PSORIASIS TREATMENT: IMPACT OF TNF-α GENE POLYMORPHISMS ON ETANERCEPT RESPONSE AND SERUM TNF-α IN IRAQI PATIENTS WITH MODERATE TO SEVERE PSORIASIS
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Psoriasis is a chronic inflammatory condition that requires effective treatment. Genetic variability, particularly in the Tumour Necrosis Factor-alpha (TNF-α) gene, may influence patients’ response to biological therapies such as etanercept. This study evaluated the association of four TNF-α gene polymorphisms (rs361525 G/A, rs673 G/A, rs1800629 G/A, and rs1800750 G/A) with serum TNF-α levels and response to etanercept in Iraqi patients with psoriasis. A retrospective study was conducted on 80 patients with moderate-to-severe psoriasis who received etanercept for at least six months. Patients were categorised as responders (≥ 75% PASI reduction) or non-responders (≤ 50% PASI reduction). Genotyping was performed using PCR and

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Publication Date
Sun Jan 01 2023
Journal Name
Iraqi Journal Of Biotechnology
Molecular Detection of Candida spp. Isolated from Female Patients Infected with COVID-19 in Baghdad City
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Abstract: Coronavirus disease 2019 (COVID-19) is an infectious disease with severe acute respiratory syndrome and first recognized in Wuhan, China, and it has since spread to the world, resulting in the coronavirus pandemic to 2020. The present study aimed to evaluate Molecular study of some types of vaginal fungi isolated from recovered women from Covid-19 in Baghdad governorate. The study was conducted on 213 samples collected between December 2021 and March 2022, where the number of positive samples reached 188 with percentage 88.26%, while the number of negative samples reached 25 with percentage 11.73% by taking vaginal swabs from various female patients in Al- Kadhimiya Teaching Hospital. Three of Candida spp. were isolated: Candida a

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Publication Date
Wed Jun 01 2016
Journal Name
Journal Of Biotechnology Research Center
TGF-β1 Gene Polymorphism in Codon 10 +869*C/T and Codon 25 +915*G/C Positions in Iraqi Patients with Type 2 Diabetes Mellitus
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This study included 50 blood samples that were collected from patients with age ranged between 35-65 years. Thirty samples were collected from patients with Type 2 Diabetes Mellitus (T2DM), while 20 blood samples were collected from healthy individuals as a control sample. The polymorphism results of TGF-β1 gene in codon 10: +869*C/T position by using amplification refractory mutation system (ARMS-PCR) showed that the T allele was suggested to have a protective effect, while C allele was associated with an increased risk of T2DM. The TT and CT were suggested to have a protective effect, while CC genotype was associated with an increased risk of T2DM. The polymorphism results of TGF-β1 gene in codon 25: +915*G/C position in samples

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