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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 Jun 10 2025
Journal Name
Al–bahith Al–a'alami
Iraqi Satellite Music Channels and Their Role in Spreading Negative Values among University Youth
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This study aims to clarify the role of Iraqi satellite channels in spreading negative values ​​among university youth; and the tendency of this segment to simulate the descending behaviors and pseudo-peculiar concepts of our society, which are displayed through the screens of these channels, based on the relevant media literature such as scientific references and the results of previous studies and research.

The study followed the survey methodology to examine the public based on the questionnaire as a research tool, which was distributed to a sample of male and female students of Baghdad University enrolled in the university for the academic year 2011-2012.

In order to achieve the specific objectives of this research

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Publication Date
Mon Dec 21 2020
Journal Name
Frontiers In Medicine
Anxiety, Practice Modification, and Economic Impact Among Iraqi Dentists During the COVID-19 Outbreak
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Objectives: As health care workers on the front line during the coronavirus (COVID-19) pandemic, dental practitioners are amongst those at risk due to their close contact with potentially infected individuals. The aim of the current study was to assess the anxiety, awareness practice modification, and economic impact amongst Iraqi dentists whilst working during the outbreak.

Methods: This study was performed using an online survey questionnaire with aid of Google forms from 2nd to 23rd July 2020. A total of 484 clinicians responded. The questionnaire was composed of open end, closed end, and Likert five-point scale questions to assess anxiety, awareness and financial impa

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Publication Date
Thu Nov 23 2023
Journal Name
Journal Of Al-farahidi's Arts
Linguistic Analysis of Translating The Iraqi novel "The Corpse Washer" from Arabic to English
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This research aims to conduct a linguistic analysis of the translation of the novel "The Corpse Washer" by the Iraqi author Sinan Antoon. The main objective is to explore the challenges and strategies involved in translating this literary work, particularly the difficulties in translating the Baghdadi dialect and the obstacles it poses for non-native speakers. Employing a descriptive research methodology, the study examines the linguistic aspects of the translation, specifically selected conversational texts in the novel. It identifies the difficulties faced by translators in preserving the essence of the original novel and presents instances where errors occurred in translating vocabulary, conversational expressions, proverbs, and idi

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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)
Prevalence of B-Thalassemia Carriers Among a Cohort of University Students in Hawler Province of Iraqi Kurdistan
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         A representative sample of a thousand volunteer university students was screened for evidence of thalassemia minor.Complete blood counts using automated blood cell analysers and blood smears were examined. Patients having anemia, abnormal red cell indices or morphological features of thalassemia minor like hypochromia, microcytosis, target cells erythrocytosis and family history of thalassemia were then investigated for determination of  HbA2 & HbF levels. Estimation of hemoglobin A2 was performed by micro-column chromatography while HbF was done using alkali denaturation. Seventy seven out of the thousand samples tested positive for thalassemia minor. They all showed a hemoglobin A

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Publication Date
Fri Dec 30 2011
Journal Name
Al-kindy College Medical Journal
Increase serum leptin level in Helicobacter pylori infection in Iraqi gastritis patients
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Background: H.pylori colonized gastric mucosal
epithelium will virtually develop gastritis and had the
capacity to persist for decades. Pathogenesis is
dependent upon strain, virulence host genetic
susceptibility, and environmental cofactors. Leptin is
a member of the class 1 cytokine family so altered
leptin production during ifnect and inflammation that
leptin part of the cytokine cascade ,which
orchestrates the defense mechanism.
Objective: Examin the effect of H.pylori infection
on serum leptin level.
Methods: One hundred and thirty(130) Patients
attending the Endoscopic Unit at "Gastroenterology
and Hepatology Teaching Hospital/ Baghdad Medical
City"were included in this study with ages rang

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Publication Date
Wed Dec 30 2015
Journal Name
Al-kindy College Medical Journal
Subclinical Hypothyroidism in Obese Iraqi Patients Attending Obesity Research and Therapy Unit
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ABSTRACTBackground Subclinical hypothyroidism is mild thyroid hormone deficiency, defined by elevation of serum thyroid-stimulating hormone concentration despite a normal free T3, free T4 level, can be distinguished by clinical and circumstantial observations from other conditions that cause this constellation of laboratory findings. The aim is to find the prevalence, anthropologic, and metabolic changes associate subclinical hypothyroidism(SH) in adult patients presented to obesity research and therapy unit (ORTU Objective: To find the prevalence of subclinical hypothyroidism (SH) in adult obese patients presented to obesity research and therapy unit (ORTU) in AL-Kindy College of medicine and to describe the anthropologic and metabolic

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Publication Date
Tue Aug 23 2022
Journal Name
International Journal Of Health Sciences
Association between periostin and bone minerals in osteoporosis and osteopenia Iraqi patients
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Background: osteoporosis is characterized by a reduction in bone mineral density, skeletal microstructure breakdown, increased bone fragility, and fracture susceptibility. Osteopenia is the preceding step to osteoporosis because it causes a decrease in bone mass, osteoporosis reduces a person's quality of life. Periostin (encoded by Postn), its name is derived from the fact that it was first detected in periosteal osteocytes and osteoblasts. Periostin deficiency has been linked to osteoporosis and weak bones. Study objectives: The purpose of this study was to determine periostin levels in serum of Iraqi patients with osteoporosis and osteopenia, and it is also possible to consider periostin as a diagnostic factor to follow the progression o

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Publication Date
Sun Dec 07 2014
Journal Name
Baghdad Science Journal
Studying Association between Thyroid Disorders and Helicobacter pylori infection in Iraqi Patients
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This study was aimed to investigate the association between thyroid disorder and Helicobacter pylori infection in 122 patients (100 females and 22 males )and for comparison, 60 healthy individuals (31females and 29 males),who had no thyroid disorder, were also included in the study. Blood samples were collected from both patients and the healthier individuals. Enzyme Linked Fluorescent Assay (ELFA) technique through using Vitek Immuno Diagnostic Assay System (VIDAS) was applied to measure levels of the thyroid hormones (tri-iodothyronine T3, tetra-iodothyroxine T4) and thyroid stimulating hormone (TSH). From the results obtained, patients were classified into three groups: 40 were

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Publication Date
Tue Jan 01 2019
Journal Name
Journal Of Clinical And Diagnostic Research
Thiopurine S-Methyltransferase Polymorphism in Iraqi Paediatric Patients with Acute Lymphoblastic Leukaemia
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Publication Date
Fri Jul 22 2022
Journal Name
Biochemical And Cellular Archive
HEPATITIS B VIRUS GENOTYPES IN IRAQI PATIENTS WITH CHRONIC HEPATITIS B INFECTION
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Hepatitis B virus (HBV) infection is a serious disease of the liver and signifies a major worldwide health concern. HBV Genotyping is vital for further epidemiological study, predicting the disease outcome and response to treatment. The current study aimed to determine hepatitis B virus genotypes in patients with chronic hepatitis B, and to validate possible associations with the baseline characteristics of the disease. A total of 90 patients with chronic hepatitis B infection were enrolled in this study. Liver function tests, hepatitis B virus markers and DNA viral load were done using routine standardized procedures. HBV genotyping was performed using real time PCR. Genotype D was the most predominant in 64 (71.1%) of samples, while

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