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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
Sun Jan 01 2023
Journal Name
The Egyptian Journal Of Hospital Medicine
Evaluation of Interleukin-18 Serum Concentration and Gene Polymorphism (Rs1946518) in A Sample of Type-2 Diabetes Mellitus Patients from Iraq.
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Background Type two diabetes (T2DM) is characterized by insufficient insulin production and secretion. Additionally, the body develops insulin resistance which affects 90–95% of diabetics. Complex cytokines, receptors, genetic pathways, and the immune system are involved in T2DM. Interleukin-18 (IL-18) is one of the inflammatory cytokines associated with Type 2 diabetes. Environmental and genetic variables, including genetic polymorphisms, can increase T2DM risk and its consequences. Single nucleotide gene polymorphisms (SNPs) are important risk factors for diabetes that can be used to find the disease early and treat it better. Objective This study aimed to determine the levels of IL-18 in the serum of Iraqi patients with Type 2 diabetes

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Publication Date
Fri Apr 01 2022
Journal Name
Baghdad Science Journal
Data Mining Techniques for Iraqi Biochemical Dataset Analysis
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This research aims to analyze and simulate biochemical real test data for uncovering the relationships among the tests, and how each of them impacts others. The data were acquired from Iraqi private biochemical laboratory. However, these data have many dimensions with a high rate of null values, and big patient numbers. Then, several experiments have been applied on these data beginning with unsupervised techniques such as hierarchical clustering, and k-means, but the results were not clear. Then the preprocessing step performed, to make the dataset analyzable by supervised techniques such as Linear Discriminant Analysis (LDA), Classification And Regression Tree (CART), Logistic Regression (LR), K-Nearest Neighbor (K-NN), Naïve Bays (NB

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Publication Date
Fri Sep 01 2023
Journal Name
Journal Of Engineering
Iraqi Sentiment and Emotion Analysis Using Deep Learning
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Analyzing sentiment and emotions in Arabic texts on social networking sites has gained wide interest from researchers. It has been an active research topic in recent years due to its importance in analyzing reviewers' opinions. The Iraqi dialect is one of the Arabic dialects used in social networking sites, characterized by its complexity and, therefore, the difficulty of analyzing sentiment. This work presents a hybrid deep learning model consisting of a Convolution Neural Network (CNN) and the Gated Recurrent Units (GRU) to analyze sentiment and emotions in Iraqi texts. Three Iraqi datasets (Iraqi Arab Emotions Data Set (IAEDS), Annotated Corpus of Mesopotamian-Iraqi Dialect (ACMID), and Iraqi Arabic Dataset (IAD)) col

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Publication Date
Fri Dec 14 2018
Journal Name
Iraqi National Journal Of Nursing Specialties
Evaluation of Diabetes Self-Management among Patients in Baghdad City: A Comparative Study
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Objective(s): To Evaluate Diabetes self –management among patients in Baghdad City and to compare
between these patients self-management relative to the type of the disease.
Methodology: A descriptive design was conducted in Baghdad city, started from November 16th 2017 to the
end of May 17 th 2018 in order to evaluate Diabetes self-management. Purposive (non-probability) sample,
which was consisted of (120) patients who were diagnosed with D.M. The sample is comprised of (60) patient
with diabetes type I and (60) patient with diabetes type II. It is consisted of (60) male and (60) female. A
questionnaire is constructed for the purpose of the study. It is composed of (42) items. Reliability and validity of
the ques

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Publication Date
Mon Sep 30 2024
Journal Name
Iraqi Journal Of Science
Study of Some Hormonal and Biochemical Parameters among Patients with Chronic Liver Diseases
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It has been revealed previously that chronic liver disease (CLD) may be associated to hormonal fluctuations. The current study, therefore, aimed to evaluate some hormones in CLD patients compared with non-CLD individuals. This case control study was conducted at Gastroenterology and Hepatology Teaching Hospital, Medical city, Baghdad, Iraq during December 2021 to May 2022. One hundred and twenty male patients with CLD (age:14-75 years) and 120 control males (age: 24-70 years) were involved in this study. Serum samples were taken from all individuals and were then analysed for many tests which included hormones (Cortisol, testosterone, prolactin, insulin  and thyroid stimulating hormone TSH); biochemical analysis (Prothrombin time

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Publication Date
Tue Sep 03 2019
Journal Name
Rawal Medical Journal
Evaluation of low back pain among female obese patients and associated risk factors
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Background: obesity is nowadays a pandemic condition. Obese subjects are commonly characterized by musculoskeletal disorders and particularly by non-specific low back pain (LBP). However, the relationship between obesity and LBP remain to date unsupported by an objective measurement of the mechanical behavior of spine and it is morphology in obese subjects. . Objectives: To identify the relationship between obesity and LBP regarding (height, weight, sleeping, chronic diseases, smoking, and steroid). Method: A cross-sectional study was conducted from the first of January 2016 to January 2018 in obe

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Publication Date
Fri Jan 29 2021
Journal Name
Research Journal Of Pharmacy And Technologythis Link Is Disabled.
Exploration of a new fluoride resistance gene (Fram gene) in oral streptococcus mutans maw
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Publication Date
Thu Jan 01 2015
Journal Name
Iraqi Journal Of Biotechnology
Association among family history and some microbial infectious ( Helicobacter pylori IgG and Hepatitis B and C Virus) as Risk Factors for Atherosclerosis in Iraqi Patients
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Certain bacterial and viral infectious agents may play a role in the activation of inflammation in atherosclerosis lesions. Epidemiological studies indicate that infectious agents may predispose patients to atherosclerosis as Infections have been associated with an increased risk of this disease. Moreover, a positive antibody status has been detected against some infectious organisms associated with atherosclerotic rupture. Infectious agents found in human atheroma, which may directly cause or accelerate atherosclerosis , include many pathogens but the present study focused on Helicobacter pylori, hepatitis B virus surface antigen and C. In order to evaluate the possible association between H. pylori, HBV, and HCV infections and the risk of

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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
Sat Dec 31 2022
Journal Name
Al-kindy College Medical Journal
Molecular Microbiology in Clinical Practice: Current and Future Applications: Molecular Microbiology
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Technological advances have yielded new molecular biology-based methods for the diagnosis of infectious diseases.  The newest and most powerful molecular diagnostic tests are available at regional and national reference laboratories, as well as at specialized centers that are certified to conduct metagenomic testing.  Metagenomic assays utilize advances in DNA extraction technology, DNA sequence library construction, high throughput DNA sequencing and automated data analysis to identify millions of individual strands of DNA extracted from clinical samples.  At present, metagenomic assays are only possible at a small number of special research, academic and commercial laboratories.  Continued research in human and path

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