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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
Wed Sep 15 2021
Journal Name
Journal Of Baghdad College Of Dentistry
Salivary Cortisol as a Stress Biomarker and Total Viable Count of Salivary Bacterial Microbiome among COVID-19 Patients
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Background: The COVID-19 virus outbreak had a massive effect on many parts of people's lives, as they were advised to quarantine and lockdown to prevent the virus from spreading, which had a big impact on people's mental health, anxiety, and stress. Many internal and external factors lead to stress. This negatively influences the body's homeostasis. As a result, stress may affect the body's capacity to use energy to defend against pathogens. Many recent investigations have found substantial links between human mental stress and the production of hormones, prohormones, and/or immunological chemicals. some of these researches have verified the link between stress and salivary cortisol levels. The aim of this study is to measure salivary corti

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Publication Date
Sat Mar 02 2019
Journal Name
World Heart Journal
Assessment of the Left Ventricular Mass (LVM) among Patients with Diabetes in Relation to Age Using Doppler Echocardiography
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Background: Diabetes mellitus a major factor that has adverse effects on the vascular system and the heart. It causes an increase in cardiac muscle thickness, resulting in decreased compliance and increased peripheral arterial stiffness. This study aims to assess the left ventricular mass (LVM) and left ventricular hemodynamic changes in diabetic patients measured by Doppler echocardiography. Patients and Methods: The study included 50 diabetic patients ranging in age between 25 and 80 years, (mean age: 54.1 ± 15.10, 19 males, 31 females) and 50 healthy subjects, aged 25 to 80 years (mean age: 48.52 ± 14.45, 11 males, 39 females). Doppler echocardiography was used to assess left ventricular function. The measurements included

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Publication Date
Sat Oct 01 2022
Journal Name
The Egyptian Journal Of Hospital Medicine
Role of Certain Pro-Inflammatory Cytokines in Pathogenicity of Cardiomyopathy in Sample of Iraqi Patients
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Background: Cardiomyopathy (CM) is a cardiac muscle disorder that can lead to heart failure (HF). It has several phenotypes, including dilated, hypertrophic, and restricted. Pro-inflammatory cytokines play a crucial part in the development and advancement of CM. Objective: This study aimed to measure the concentration of certain cytokines [Interleukin- 1β (IL-1β), Interleukin-6 (IL-6), and Tumor Necrosis Factor (TNF-α)] in the serum of Iraqi patients with CM. Materials and Methods: Sixty CM patients and 30 healthy individuals with age ranged from 40 to 70 years old were enrolled in this study through their presence at Iraqi Center for Heart Diseases, Ghazy Al-Hariri Hospital for Surgical Specialties in the Medical City in Baghdad. The st

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Publication Date
Tue Mar 01 2011
Journal Name
Journal Of Economics And Administrative Sciences
Measurement and analysis of the production function of the transport sector in the Iraqi economy
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Transportation Sector classified as one of the services sectors which is without the production activities cannot be complete its rule. Is act asmoving actions which operate at production and non production goals for the organization and individuals insides the country and with others, that is why this sector act as one of the main which is occupied an important status on the way the economic activities and on the level of the economic institutions the transportation work on transforming all the commodities and products from productions locations to consumption location then its effect the productivity process and create the location utility and on the level of economic it considered as one of the economic supportive structure an

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Publication Date
Wed Jan 01 2014
Journal Name
Current Research In Microbiology And Biotechnology
Cytogenetic Analysis for the Effect of Alcoholic and Water Extracts of Iraqi Propolis in Mice
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This study was conducted to study the cytogenetic effect of both alcoholic and water extracts of propolis on mice. Three different samples of propolis were collected from three different regions of Iraq (Najaf, Arbil and Baghdad) to be used in this study. The cytotoxic effect of two different doses of each extracted sample was measured by employing cytogenetic analysis which included (mitotic index (MI), chromosomal aberrations (CAs), micronucleus index (MN) and sperm abnormalities). Results showed that significant increase in MI and significant reduction in MN, CAs and sperm abnormalities percentage were seen after treatment with both alcoholic and water extract of the three samples when compared with negative control, and alcoholic extrac

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Publication Date
Fri Sep 15 2023
Journal Name
History Of Medicine
The multifaceted role of Dectin-1 and Card9 in inflammatory bowel disease Iraqi patients
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The study aimed to investigate the role of Dectin-1 and Card-9 in pathogenicity of inflammatory bowel disease (IBD). This investigations involved 150 blood samples for IBD patients which divided in to two groups (50 for crohns disease CD (G2) and 50 for ulcerative colitis UC (G3)). All a apparently (male and female) attended to) Al-Kindy hospital) in Baghdad city, department of Gastroenterology. and all of thin were diagnosis by consulters medical staff and pathologists with age range 15-65years average 40 years. in addition to 50 blood samples were collected from apparently healthy individuals as control group (G1). 10 ml were withdrawn from all participants, 5ml for the immunological study which carried by ELISA technique and 5 ml used fo

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Publication Date
Thu Jan 01 2026
Journal Name
Open Journal Of Medicinal Chemistry
Relationship between chronic hepatitis B virus and pathogenecitity of Celiac disease in Iraqi patients
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the association between celiac disease and viral infection

Publication Date
Fri Apr 29 2022
Journal Name
Iraqi Journal Of Agricultural Sciences
RECURRENT OF TMPRSS2 GENETIC POLYMORPHISM AND ITS ROLE IN IRAQI PATIENTS WITH PROSTATE CANCER
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The role of transmembrane protease serine 2(TMPRSS2) in prostate carcinogenesis relies on overexpression of ETS transcription factors. The aim of this article was to investigate the association of TMPRSS2 polymorphism (rs12329760 (C\T)) with prostate cancer (PCa) in sample of Iraqi patients. One hundred and two individuals were involved in this study for the period from February – 2019 to February – 2020. The sample type was formalin fixed paraffin embedded tissue samples (FFPE), which involved  fifty-six samples of pre-diagnosed patients with prostate cancer, aged between 48 and 86 years, and forty-six samples were found to be controls (healthy group) dependent on Prostate Gland integrity, which is the same age as in a group o

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Publication Date
Thu Apr 27 2023
Journal Name
Journal Of The Faculty Of Medicine Baghdad
Prevalence and Demographic Characteristics of Metabolic Syndrome in Iraqi Patients with Acute Coronary Syndrome
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خلفية البحث: المتلازمة الأيضية عند المرضى العراقيين المصابين بالمتلازمة التاجية الحادة قليلا ما تمت دراستها. الأهداف: دراسة الخصائص المجتمعية-السكانية للمرضى العراقيين المصابين  بالمتلازمة الايضية مع المتلازمة التاجية الحادة. المرضى وطرق العمل:  شملت الدراسة المقطعية 150 مصابا بالمتلازمة التاجية الحادة الذين يعالجون في وحده العناية القلبية في مستشفى اليرموك التعليمي في بغداد للفترة من منتصف كانون الث

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Publication Date
Tue Sep 08 2020
Journal Name
Baghdad Science Journal
Prevalence and Characterization of Some Colibactin Genes in Clinical Enterobacteriaceae isolates from Iraqi Patients
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The members of the family of Eentrobacteriaceae harbour a gene cluster called polyketide synthase (pks) island. This cluster is responsible for the synthesis of the genotoxin colibactin that might have an important role in the induction of double-strand DNA breaks, leading to promote human colorectal cancer (CRC). Eleven out of the eighty eight isolates (12.5%) were pks+, distributed as 7 (8%) isolates of E. coli, 2 (2.25%) of K. pneumoniae and 2 (2.25%) of E. aerogenes. The cytotoxic effects of selected pks+ isolates (E. coli and E. aerogenes) on HeLa cells were represented by decreasing cell numbers and enlarged cell nuclei in comparison to the untreated cells. Cyt

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