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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
Sat Sep 30 2023
Journal Name
Iraqi Journal Of Science
Evaluation of the level of some Interleukins in serum of Iraqi patients with Endometrial Carcinoma
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Endometrial Cancer (EC) is one of the most common malignancy of the female reproductive system. With an increasing incidence, it is important to improve the new prognosis ways for its pre-diagnosis that must be early, accurate and effective. This study aimed to search for biological (like some new interleukins) which could help in early diagnosis of EC before the hysterectomy. Currently not enough research is being done exploiting linking between the interleukins submitted in this study and EC. Epically IL-36 and IL-38, which have been recently described and are still under study in the world. This study is the first of its kind in Iraq. Fifty-five patients with EC (mainly in their first or second stage, due to early diagnosis and who ne

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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
Sat Jun 19 2021
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Serum Chitotriosidase level as a Novel Biomarker for Therapeutic Monitoring of Nephropathic Cystinosis among the Iraqi children
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Background: Cystinosis is a rare autosomal recessive lysosomal storage disease with high morbidity and mortality. It is caused by mutations in the CTNS gene that encodes the cystine transporter, cystinosin, which leads to lysosomal cystine accumulation. It is the major cause of inherited Fanconi syndrome, and should be suspected in young children with failure to thrive and signs of renal proximal tubular damage. The diagnosis can be missed in infants, because not all signs of renal Fanconi syndrome are present during the first months of life. Elevated white blood cell cystine content is the cornerstone of the diagnosis. Since chitotriosidase (CHIT1 or chitinase-1) is mainly produced by activated macrophages both in normal and inflammator

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Publication Date
Wed Jan 01 2020
Journal Name
Annals Of Tropical Medicine And Public Health
Salivary Protein Carbonyl Level in Relation to Gingival Health Status among a Group of Iraqi Pregnant Women
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Publication Date
Sat Feb 01 2025
Journal Name
Journal Of Baghdad College Of Dentistry
Effect of the examination stress on periodontal health status and salivary IL-1? among Iraqi dental students
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Background: Periodontal diseases (PD) are common chronic inflammatory diseases caused by pathogenic microorganisms colonizing the gingival area and inducing local and systemic elevations of pro-inflammatory cytokines resulting in tissue destruction by a destructive inflammatory process. Stress was considered as one of the important risk factors that cause many inflammatory diseases including PD. The purpose of this study wasto determines and compares clinical periodontal parameters (PLI, GI and BOP), stress level and salivary IL-1? level among dental students before, during and after mid-year exam, also to find the correlation among stress, IL-1? and clinical periodontal parameters. Materials and methods: The sample was consisted of 24 dent

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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
Thu Jun 01 2023
Journal Name
Baghdad Science Journal
Comparison Study between Adipsin Levels in Sera of Iraqi Patients with Diabetes and Neuropathy
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The current study was designed to compare some of the vital markers in the sera of diabetic and neuropathy patients via estimating Adipsin, Fasting blood Glucose(FBG), Glycated(HbA1c) hemoglobin, Homeostasis Model Assessment Index (Homa IR ), Cholesterol, High density lipoprotein (HDL), Triglycerides (T.G), Low-density, and lipoprotein (LDL), Very Low Density Lipoprotein (VLDL), in sera of Iraqi patients with diabetes and neuropathy. A total  of ninety  subjects  were divided into three groups: group I (30 diabetic with neuropathy males) and group II (30 diabetic males without neuropathy), and 30 healthy sujects were employed as control group. The results showed a significant decline in Adipsin levels (p>0.05) in neuropathy, T2DM g

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Publication Date
Wed May 10 2017
Journal Name
Ibn Al-haitham Journal For Pure And Applied Sciences
Estimation of ALP, GPT and GOT Activities in Iraqi Patients Female With Breast Cancer
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To investigate the activity and role of certain enzyme markers in 30 patients female with breast cancer (non-treated, treated, and treatment with recovered).The serum activity of enzyme tumor markers (ALP, GPT and GOT) of (30) patients with breast cancer, and (7) healthy control subjects by using statistical analysis: There is significant difference higher in activity of serum enzyme tumor markers (ALP, GPT, and GOT) in all patients as compared with healthy control

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Publication Date
Tue Mar 30 2021
Journal Name
Iraqi Journal Of Science
Dysregulation of Micro RNA-155 as a Biomarker in Iraqi Patients with Prostate Cancer
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Chronic inflammation can induce proliferative events and posttranslational DNA modifications in prostate tissues through oxidative stress. The miR-155 expression is abnormally increased in tumors. Therefore, this study aims to explore the clinical significance of serum TNF-α and IL-1α as well as miR-155 expression in prostate cancer (PC) patients.

A total of 50 blood samples from patients diagnosed with prostate cancer were collected from the Oncology Department, Baghdad Teaching Hospital, along with samples from 50 healthy volunteers. Serum TNF-α and IL-1α levels in Iraqi males with prostate cancer were estimated by using enzyme-linked immunosorbent

assay (ELISA). The total RNA was extracted from all subjects and con

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