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Molecular analysis of CFTR gene mutations among Iraqi cystic fibrosis patients
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Abstract<sec> <title>Background

Cystic fibrosis (CF) is an autosomal recessive multisystem disease that results from mutation(s) of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. More than 2100 mutations and polymorphisms have been reported in this gene so far. Incidence and genotyping of CF are under-identified in Iraq. This study aims to determine the types and frequencies of certain CFTR mutations among a sample of Iraqi CF patients. Two groups of patients were included: 31 clinically confirmed CF patients in addition to 47 clinically suspected patients of CF. All confirmed patients had typical, moderate-severe clinical presentation and course of the disease. Molecular analysis was performed on the majority of enrolled patients using the CF-stripAssay® kit supplied by ViennaLab diagnostics, GmbH, Austria.

Results

The mutation-detection rate from the tested 34 mutations in this study was 19.5% and the 8 detected mutations were as follows: 3120+1G>A and W1282X were found in 3 (4.17%) patients each; F508del and R1162X were found in 2 (2.78%) patients each; 3272-26A>G, R347P, I507del, and 2183AA>G were found in 1 (1.38%) patient each. Polymorphic variants of IVS8, namely 5T, 7T, and 9T, were detected in ~ 70%. These results were nearly similar to what was reported in regional countries.

Conclusion

Cystic fibrosis seems to be not rare as previously thought. 3120+1G>A and W1282X are the two most commonly detected mutations. F508del needs to be included in all future tests, while the I507del mutation was uniquely reported in this study but not in regional studies.

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Publication Date
Fri Jan 01 2016
Journal Name
Diabetic Foot &amp; 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
Sun Jan 01 2023
Journal Name
The Egyptian Journal Of Hospital Medicine
Evaluation of Interleukin-9 Serum Level and Gene Polymorphism in A Sample of Systemic Lupus Erythematosus in Iraqi Female's Patients.
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Background Immunological gene and serum level for interleukin- 9 rs 17317275 have been established to have linked to predisposition systemic lupus erythematosus (SLE) and its severity. SLE is a severe, systemic autoimmune disease characterized by autoantibody generation, complement activation, and immune complex deposition. In the pathophysiology of SLE, cytokines have a pleiotropic function. Recently, IL-9 was discovered to mediate strong anti-inflammatory effects in numerous cells or experimental autoimmune models. Objective This study aimed to determine the role of age, IL-9 serum level and genetic polymorphism, C-reactive protein (CRP), Anti-nuclear antibody (ANA) and Anti- double-stranded DNA (anti-dsDNA) to recognize SLE pathogenesis.

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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&gt;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&gt;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
Wed Oct 26 2022
Journal Name
Iraqi Journal Of Science
Gene Expression Analysis via Spatial Clustering and Evaluation Indexing
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The density-based spatial clustering for applications with noise (DBSCAN) is one of the most popular applications of clustering in data mining, and it is used to identify useful patterns and interesting distributions in the underlying data. Aggregation methods for classifying nonlinear aggregated data. In particular, DNA methylations, gene expression. That show the differentially skewed by distance sites and grouped nonlinearly by cancer daisies and the change Situations for gene excretion on it. Under these conditions, DBSCAN is expected to have a desirable clustering feature i that can be used to show the results of the changes. This research reviews the DBSCAN and compares its performance with other algorithms, such as the tradit

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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
Thu Jun 29 2023
Journal Name
Farmacia
CORRELATION BETWEEN INTEGRIN ALPHA-4 GENE POLYMORPHISMS AND FAILURE TO RESPOND TO NATALIZUMAB THERAPY IN IRAQI MULTIPLE SCLEROSIS PATIENTS
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Publication Date
Tue Oct 25 2016
Journal Name
Iosr Journal Of Pharmacy And Biological Sciences
Molecular study of blaVEB-1 gene in Proteus mirabilis isolated from clinical Samples from Baghdad City’s hospitals
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From different hospitals in Baghdad city, 25 clinical isolates of Proteus spp. were collected from different clinical samples, all isolates were identified as Proteus mirabilis by using bacteriological and biochemical assays in addition to Vitek-2 identification system. 15 (60%) isolates were identifying as Proteus mirabilis. The susceptibility of P. mirabilis isolates towards cefotaxime and ceftazidime was (66.6 %), (20%) consecutively; while extended spectrum β-lactamases producing P. mirabilis percentage was (30.7 %). Because blaVEB-1 was documented as an important indicator for increasing risk of extended spectrum beta ßlactamases producing P. mirabilis isolates that began to spread from many geographic area to Far east which inc

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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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Publication Date
Mon Feb 20 2017
Journal Name
Ibn Al-haitham Journal For Pure And Applied Sciences
Effect of Type 2 Diabetes Mellitus on Extracellular Superoxide Dismutase: Without Complications among Iraqi Patients
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The current study includes (130) T2DM patients (group P) [51 males and 79 females with an ages range (35 to 55) and ages mean 49.89 years], they are sub-grouped into three categories according to their HbA1c value. patients with HbA1c less than 7 are considered as good controlled diabetic patients (30 patients) (group P1), while patients with HbA1c between 7 and 8 are considered as medium controlled diabetic patients (40 patients) (group P2), and the patient whom their HbA1c more than 8 are considered as uncontrolled diabetic patients (50 patients) (group P3). The patients group results are compared to control healthy subjects (35 subjects) (group C) [14 males and 21 Females with age range 45.51 years] matched for age, gender and BMI wer

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Publication Date
Fri Mar 29 2024
Journal Name
Molecular Biology Reports
Role of endoplasmic reticulum aminopeptidase-1 gene polymorphism (rs13167972) in occurrence susceptibility of ankylosing spondylitis in a sample of Iraqi male patients
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