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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
Journal Of The College Of Education For Women
Topic Management in Selected Dementia Patients' Speeches: A Clinical Discourse Analysis Study
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Topic management is the awareness of how speakers deal with initiating, developing, changing, and ending a topic and how they fix the relationship when a misunderstanding occurs. It is such an important unit of conversation as it includes the transition from one strategy to the other to be accomplished in a systematic and orderly manner. These strategies are impaired in dementia patients thus lead to communication breakdown. This study aims at detecting the dementia patients' topic management strategies in selected speeches and answering the questions of which of these strategies are fully or partially detected in these speeches. The researchers use a qualitative method to examine the speeches of those patients and they adopt an eclectic

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Publication Date
Wed Mar 24 2021
Journal Name
Indian Journal Of Forensic Medicine &amp; Toxicology
Study of Epstein - Barr virus Infection in Relation to the Immunohistochemical Expression of Bcl-2 gene in Tissues of Patients with Adenocarcinoma of the Colon
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Background: EBV infection in tissue micro-environment is challenged by the precisely regulated survivaland apoptosis mechanisms. Abnormal bcl-2 proto-oncogene expression in colonic carcinomas allowsaccumulation and propagation of these genetically altered cells.Objective: To analyze the relevant concordance of BCL-2 gene , EBNA1 s and LMP-1-EBV expression inissues from a group of Iraqi patients with colonic adenocarcinomas.Patients and Methods: One hundred (100) tissue biopsies, belonged to (40) patients with colorectalcancers, (40) patients with benign colon tumors, and (20) apparently normal colorectal control tissues,were enrolled in this study. The detection of EBNA1 s and LMP-1-EBV as well as BCL-2 was done byimmunohistochemist

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Publication Date
Tue Jul 16 2024
Journal Name
Experimental Parasitology
Relationship between the serum level, polymorphism and gene expression of IL-33 in samples of recurrent miscarriage Iraqi women infected with toxoplasmosis
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Publication Date
Thu Apr 01 2021
Journal Name
Journal Of Molecular Structure
Mixed-ligand complexes of ampicillin derived Schiff base ligand and Nicotinamide: Synthesis, physico-chemical studies, DFT calculation, antibacterial study and molecular docking analysis
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A novel series of mixed-ligand complexes of the type, [ML1(L2)3]Clx [M= Cr(III), Fe(III), Co(II),Ni(II), Cu(II), Cd(II) and Hg(II), n = 2, 3], was synthesized using Schiff base (HL1) as main ligand, nicotinamide (L2) as secondary ligand, and the corresponding metal ions in 1:3:1 molar ratio. The main ligand, HL1 was prepared by the interaction of ampicillin drug and 4-chlorobenzophenone. The synthesized mixed ligand complexes were characterized by elemental analysis, UV-Vis, FT-IR,1H-NMR,13C-NMR and TG/DTG studies. In the mixed-ligand complexes, the Schiff base ligand, HL1 showed coordination to the central metal ion in tridentate manner via azomethine nitrogen, β-lactam ring oxygen and deprotonated carboxylic oxygen atoms, whereas the sec

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Publication Date
Mon Mar 13 2017
Journal Name
Journal Of Baghdad College Of Dentistry
White Spot Lesions Among Patients Treated With Fixed Orthodontic Appliance at Different Time Intervals
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ABSTRACT Background:- White spot lesions are common esthetic problem that compromise the success of orthodontic treatment. This study aimed to assess white spot lesions in patients with fixed orthodontic appliance at different time intervals. Materials & Methods:- Thirty two patients (24 females and 8 males) were included in this study and they underwent clinical examination for white spot lesions using enamel decalcification index at four time intervals: (2-3 weeks after appliance insertion, 2, 4 and 6 months). Results:- The patients were free of white spot lesions at the appliance insertion visit. The mean of white spot lesions was 2.22 which were increased significantly during six months to reach 24.59 at the end of study. There was a si

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Publication Date
Tue Jul 05 2022
Journal Name
Journal Of Pharmaceutical Care
Epidemiological and Clinical Factors Affecting the Response to Etanercept Among Patients with Rheumatoid Arthritis
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Publication Date
Wed Jan 30 2013
Journal Name
Al-kindy College Medical Journal
Electrocardiographic changes among beta-thalassemic major patients in ibn al-baladi thalassemia center-Baghdad
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Background :Thalassemia is an autosomal
disease of the haemoglobin. Two types of
thalassemia are recognized: thalassemia major
and thalassemia intermedia.
The most serious cardiac complication in
thalassemia major is due to multiple blood
transfusions rather than the disease itself, which
is due to iron overload.
Cardiomyopathy is the most common cardiac
defect that occurs with iron overload. Pricarditis,
congestive heart failure and arrhythmias are due
to hemosidrosis and chronic aneamia.
Aim of the study: to demonstrate the prevalence
and types of electrocardiographic changes among
thalassemic patients with aged over ten years old.

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Publication Date
Tue Mar 20 2018
Journal Name
Day 3 Thu, March 22, 2018
Southern Iraqi Oil Fields Drilling Problems Identification, Analysis, and Treatment
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Abstract<p>Multiple drilling problems are being faced continuously while drilling wells in the southern Iraqi oil fields. Many of which are handled poorly and inefficiently which yields longer non-productive time due to the lack of knowledge about the source of these problems. This study aims to investigate the Basra oil fields formations from Faris to Mishrif, diagnose the potential problems, and present the optimum treatment for each problem.</p><p>Gathering of field data and previous studies on the subject, in addition to the field experience of drilling supervisors were all the information bases of this study. Southern Iraqi oil fields were studied and analyzed care</p> ... Show More
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Publication Date
Sun Jan 01 2023
Journal Name
Aip Conference Proceedings
Iraqi stock market structure analysis based on minimum spanning tree
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tock markets changed up and down during time. Some companies’ affect others due to dependency on each other . In this work, the network model of the stock market is discribed as a complete weighted graph. This paper aims to investigate the Iraqi stock markets using graph theory tools. The vertices of this graph correspond to the Iraqi markets companies, and the weights of the edges are set ulrametric distance of minimum spanning tree.

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Publication Date
Sun Jun 20 2021
Journal Name
Baghdad Science Journal
Hypothyroidism and Leptin in Iraqi Patients with Chronic Kidney Disease
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The present study aims at assessing the effects of chronic kidney disease (CKD) on thyroid hormone and leptin by evaluating the level of: leptin hormone along with thyroid hormone in CKD patients. The study has been conducted on  70 subjects, 50 patients with an age range between 20-50 years (25  males and 25 females) who were diagnosed to have CKD stage-5, and 20 normal controls whose ages ranged between 20-48 years (10  males and 10 females), who attended  the Nephrology and Transplant Center in Medical City of Baghdad- Iraq from April  2018  to July  2018. The study showed a highly significant (P<0.01) increase in TSH level in CKD patients in comparison with controls. While T3 and T4 levels observed highly significant decrea

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