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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
Tue Jan 01 2019
Journal Name
Indian Journal Of Public Health Research &amp; Development
Maximum Bite Force among Iraqi Primary School Children in Mixed dentition
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Publication Date
Sat Oct 01 2022
Journal Name
The Egyptian Journal Of Hospital Medicine
Evaluation of Certain Physiological Biomarkers in Iraqi Endometrial Carcinoma Patients
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Background: Endometrial Cancer (EC) is the malignant tumor originating from endometrium cell (lining of the uterus). EC incidence and mortality have increased in recent years. Routinely used methods for EC diagnosis and treatment are histopathological tissue culture after surgery and postoperative radiotherapy, however there is still not enough efficient treatment for recurrence or progression of this disease. So, there is a critical need for further EC identification by new biological ways for the prognostic diagnosis of it. Objective: This study aimed to look for ways by which could help in diagnosis of EC before the hysterectomy. Materials and Methods: 55 patients with EC and 57 healthy women were involved in this study (up to 45 years)

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Publication Date
Mon Nov 29 2021
Journal Name
Iraqi Journal Of Science
Detection of Pan Braf in Thyroid Tumors in Iraqi Patients
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The B-type Raf kinase (BRAF) is a member of RAS\RAF\MEK\ERK pathway and this pathway can lead to increased cellular growth, invasion and metastasis. The mutated BRAF protein activates MAPK signaling pathway, results in abnormal cellular growth, apoptosis resistance, tumor progression and metastasis. Pan-BRAF is one of available BRAF monoclonal antibodies and shared by both the wild and mutant BRAF.BRAF status is mostly determined by DNA sequencing methods. In this investigation we assessed the monoclonal Pan BRAF specific antibody that can identify wild and mutant type proteins together in formalin-fixed paraffin-embedded thyroid tumor tissues by Immunohistochemistry (IHC). Archival thyroid samples from 43 iraqi patients were immunohisto

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Publication Date
Thu Mar 30 2017
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Determination of Enzymatic Antioxidant in Iraqi Patients with Chronic Gastritis
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Infection of the gastric mucosa with Helicobacter pylori is strongly associated with chronic gastritis, peptic ulcer and gastric cancer. Helicobacter pylori virulence factors include a variety of proteins that are involved in its pathogenesis, such as VacA and CagA. Another group of virulence factors is clearly important for colonization of H.pylori in the gastric mucosa. These include urease, motility factors (flagellin), and Superoxide dismutase (SOD). Because of this organism's microaerophilic nature and the increased levels of reactive oxygen in the infected host, we expect that other factors involved in the response to oxidative stress are likely to be required for virulence. Superoxide dismutase is a near

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Publication Date
Fri Oct 23 2020
Journal Name
Medico-legal Update
Levels of Some Cytokines in Iraqi Patients with Multiple Myeloma
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Publication Date
Wed Oct 28 2020
Journal Name
Iraqi Journal Of Science
Detection of Some Immunological Parameters in Psoriatic Iraqi Female Patients
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Psoriasis is a common, chronic, immune-mediated skin disease with systemic pro-inflammatory activation.  This study was designed to estimate the level of two cytokines, Interleukin-36 (IL-36) and Interleukin-10 (IL-10), in psoriasis female patients. The study was accomplished on 50 Iraqi patients with psoriasis who were referred to the consulting clinic at Al-Yarmouk Teaching Hospital during the period from November 2018 to March 2019. These patients were diagnosed under the supervision of dermatologists. For the purpose of comparison, the study included 30 healthy women as a healthy control group. The serum levels of cytokines  were measured using the enzyme-linked immunosorbent technique (ELISA).The results of this study show

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Publication Date
Fri Nov 24 2023
Journal Name
Iraqi Journal Of Science
Autoantibodies Status in a Sample of Iraqi Celiac Disease Patients
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Fifty celiac disease (CD) patients (21 males and 29 females) with an age range of 2-35 years and 25 apparently healthy controls were investigated for 10 autoantibodies (anti-tissue transglutaminase IgA antibody; ATA, anti-tissue transglutaminase IgG antibody; ATG, anti-gliadine IgA antibody; AGA, anti-gliadine IgG antibody; AGG, anti-nuclear antibody; ANA, anti-double strand DNA antibody; AdsDNA, anti-thyroid peroxidase antibody; ATP, anti-phospholipid antibody; APP, anti-myeloperoxidase antibody; AMP and anti-proteinase 3 antibody; AP3) in their sera. Six autoantibodies (ATA, ATG, AGA, AGG, AMP and AP3) showed significant variations between CD patients and controls. The first four antibodies were not detected in sera of controls, while

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Publication Date
Sun Jun 01 2014
Journal Name
Baghdad Science Journal
Identification Pseudomonas aeruginosa by 16s rRNA gene for Differentiation from Other Pseudomonas Species that isolated from Patients and environment
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Pseudomonas aeruginosa is a common and major opportunistic human pathogen, its causes many and dangersinfectious diseases due to death in some timesex: cystic fibrosis , wounds inflammation , burns inflammation , urinary tract infection , other many infections otitis external , Endocarditis , nosocomial infection and also causes other blood infections (Bacteremia). thereforebecomes founding fast and exact identification of P. aeruginosafrom samples culture very important.However, identification of this species may be problematic due to the marked phenotypic variabilitydemonstrated by samples isolates and the presence of other closely related species. To facilitate species identification, we used 16S ribosomal DNA(rRNA) sequence data

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Publication Date
Mon Mar 27 2017
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Lipid Profile and Fasting Blood Sugar Analysis in Patients with Cholelithiasis
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Cholelithiasis is one of the commonest surgical problems and one of the most common gastrointestinal diseases throughout the world but its pathogenesis remains unclear. Many theories have been proposed forward to explain the mechanism of stone formation. It is not fully clear if symptomatic gallstone disease is associated with a specific pattern of some biochemical abnormalities, as lipid profile and fasting blood sugar in serum of patients.

This study was designed to estimate lipid profile and fasting blood sugar in the sera of patients with cholelithiasis in comparison with normal individuals (control).

In this study, 104(male=16, female=88) were symptomatic gallstone patients (aged 42.79± 12.18 years), and 38(male=6

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Publication Date
Wed Mar 29 2017
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
The Prevalence of Microorganisms in H1N1 Patients Compared to Seasonal Influenza in a Sample of Iraqi Patients
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This study provides valuable information on secondary microbial infections in H1N1 patients compared to Seasonal Influenza in Iraqi Patients. Nasopharynx  swabs were collected from  (12 ) patients  infected with Seasonal influenza (11  from Baghdad  and 1 Patient from south of Iraq) ,and ( 22 ) samples from patients with 2009 H1N1 ( 20 from Baghdad and  2 from  south of Iraq). The results show that the patients infected with 2009 H1N1 Virus were younger than healthy subjects and those infected with seasonal influenza. And the difference reached to the level of significance     (p< 0.01) compared with healthy subjects.Two cases infected with 2009 H1N1 virus (9.1%) were fro

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