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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 Feb 01 2021
Journal Name
Meta Gene
Association analysis of FTO gene polymorphisms rs9939609 and obesity risk among the adults: A systematic review and meta-analysis
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Scopus
Publication Date
Mon Jan 01 2024
Journal Name
Medical Research Archives
Genetic Polymorphism for the Gene Encoding Endoplasmic Reticulum Aminopeptidase-1 (ERAP-1) in Iraqi Patients with Ankylosing Spondylitis
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Ankylosing spondylitis (AS) is a common, highly heritable inflammatory arthritis affecting primarily the spine and pelvis. This study was aimed to investigate the relationship between the rs27044 polymorphism in Endoplasmic reticulum aminopeptidase-1 (ERAP-1) with the susceptibility and severity of AS correlated with some biochemical markers such as hematological parameter (Erythrocytes sedimentation rate (ESR)) and immunological parameters (C-reactive protein (CRP), Human leukocyte antigen-B27 (HLA-B27), Interlukin-6 (IL-6) and Interlukin-23 (IL-23)), and oxidative stress parameters (Glutathione (GSH) and Malondialdehyde (MDA)) in a sample of Iraqi population. A total of 60 blood samples were collected from AS patients requited Rhe

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Publication Date
Thu Jan 30 2020
Journal Name
Al-kindy College Medical Journal
The Actual Practice of Breast Self-Examination among Sample of Iraqi Patients with Breast Cancer
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Background : To assess the actual practice of breast self-examination (BSE), as an early detection tool for breast cancer, among a sample of patients affected with breast cancer in Iraq.Methods: A random sample of 200 female patients with breast cancer was analyzed to evaluate the extent of their actual practice of breast self-examination before the diagnosis of the disease.  The examined variables included the age of the patients, marital status, education, occupation, smoking habit, family history of cancer, frequency of gravidity, parity and abortions. Results: The age of patients ranged from (24-70) years with a mean age of 48 years. The highest frequency of the examined sample

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Publication Date
Mon Aug 22 2022
Journal Name
Biochemical And Cellular Archives
Deregulation of autophagy flux and gene expression induced by tobacco smoke among Iraqi smokers.
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: Cigarette smoking is a lifestyle behavior that causes significant adverse health effects. Cigarette smoke contains chemicals, many of which are lead to the production of reactive oxygen species (ROS), which can lead to apoptosis and autophagy. To estimate the association of Cigarette smoking with the autophagy and immunity, technology of real time polymerase chain reaction (RTPCR) for gene expression of (LC3A, LC3B, LC3C, myd88) was used. Enzyme-linked immunosorbent assay (ELISA) technique was utilized to measurement the amount of TNF-α protein. The ratios of LC3A/LC3B and LC3B/LC3C were calculated to estimate the autophagy flux. The results indicate the expression of LC3B, LC3C and Myd88 genes in smokers is increased significantly (p

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Publication Date
Thu Jun 08 2017
Journal Name
Ibn Al-haitham Journal For Pure And Applied Sciences
Detection of BRAF Gene in Some Iraqi Bowel Inflammation and Colorectal Cancer Patients
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The impacts of the inflammatory process on neoplasia development were observed in many cancer, it has a great role in the etiology, development and progression of invasive colorectal tumors. This study was designed to investigate the BRAF mutation and assist the clinicopathological parameter in some Iraqi bowel inflammation and colorectal cancer patients. Thirty patients were enrolled in this study (15 suffering bowel inflammation and 15 having colorectal cancer). BRAF gene was screened for the presence of mutations using PCR technique and direct  sequencing. .The results revealed no BRAF mutation in position 1799 for exon fifteen in both samples of bowel inflammation and colorectal cancer. These results were confirmed previous arti

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Publication Date
Mon Jun 01 2020
Journal Name
P J M H S
The influence of Breast Cancer Molecular Subtypes on Metastatic pattern in Iraqi patients
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Scopus
Publication Date
Thu Jun 30 2011
Journal Name
Fac Med Baghdad
Prevalence of Anemia among Iraqi Patients after Renal Transplantation
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Background: Although the issue of anemia after renal transplantation (RT) has received increasing attention lately, the data on the exact prevalence of post-transplantation anemia (PTA) in the Iraqi patients are limited. Objective: In this study we sought to determine the prevalence of PTA among Iraqi patients and to correlate the renal allograft function measurements and the use of immunosuppressant with the prevalence of anemia. Patients and Methods: One hundred and twelve (74 male, 38 female) kidney transplant recipients (KTR) attending the kidney transplant center at surgical specialties hospital were studied. All patients were on maintenance, combined immunosuppressive therapy. The renal function tests [blood urea, serum cre

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Publication Date
Fri Nov 01 2013
Journal Name
Iraqi Journal Of Community Medicine
Clinico-Histopathological Study of Calcinosis Cutis among Iraqi Patients
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AA Noaimi, IRAQI JOURNAL OF COMMUNITY MEDICINE, 2013 - Cited by 1

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Publication Date
Sun Sep 15 2024
Journal Name
Iraqi Journal Of Pharmaceutical Sciences( P-issn 1683 - 3597 E-issn 2521 - 3512)
Olanzapine-induced Metabolic Syndrome and its Association with -759C>T Polymorphism of the HTR2C Gene in Iraqi Schizophrenic Patients
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The hazardous metabolic effects of treating schizophrenia patients with olanzapine comprise serotonin 2C receptor (5-HT2C) antagonists. Metabolic side effects of antipsychotic drugs, including lipid abnormalities, disturbed glucose metabolism, and weight gain, can have a major impact on treating psychiatric patients. The intent of this study was to investigate whether there is an associated link between the genetic polymorphism at -759C>T in the promoter region of the 5-hydroxytryptamine 2C receptor (HTR2C) gene and the metabolic syndrome driven by olanzapine in schizophrenia patients. A cross-sectional study that involved fifty hospitalized patients with schizophrenia. The patients were split into two groups (metabolic and non-metab

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Publication Date
Thu Feb 01 2024
Journal Name
Baghdad Science Journal
Molecular study of the relationship of gene expression of some genes with the temperature variation of bacterial growth
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Pseudomonas aeruginosa is an opportunistic pathogen responsible for serious infections. At least three different exopolysaccharides, alginate, polysaccharide synthesis locus (Psl), and pellicle exopolysaccharide (Pel) make up the biofilm matrix in P. aeruginosa . The effect of temperature on the biofilm formation and gene expression was examined by microtiter plate and real-time quantitative polymerase chain reaction (qRT-PCR). To be able to determine the effect of temperature on biofilm formation and gene expression of P. aeruginosa, 303 clinical and environmental samples were collected. Pseudomonas aeruginosa was isolated from 61 (20.1%) and 48 (15.8%) of the clinical and e

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