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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
Thu Jun 30 2011
Journal Name
Al-kindy College Medical Journal
Prevalence of clinically significant Hepatopulmonary Syndrome among Patients with Chronic Liver Disease and Portal Hypertension
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Background : The hepatopulmonary syndrome (HPS) is defined as the triad of liver disease, arterial deoxygenation, and pulmonary vascular dilatation. The reported prevalence of HPS in cirrhotic patients varies between 5% -17.5%.Objective : To estimate the prevalence of hepatopulmonary syndrome among patients with chronic liver disease and portal hypertension and to study the correlation between HPS and the severity of liver disease.Patients and methods : Thirty patients were studied for the presence of HPS using transthoracic contrast echocardiography for detection of pulmonary vasodilatation. Arterial oxygen saturation (SaO2) was determined in erect and supine position using a pulse oximeter , (SaO2 ≤ 92 % in supine position and/or a d

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Publication Date
Sat Dec 21 2024
Journal Name
Gastroenterology
Evaluation of global DNA methylation, homocysteine and vitamin B12 levels among patients with celiac disease
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Celiac disease (CD) is an immune-mediated disorder caused by gluten in genetically susceptible individuals characterized by chronic inflammation that essentially affects the small intestine. Objective: this study was designed to measure the potential role of some serological biomarkers including vitamin B12 and homocysteine (HCY) in the progression of CD as well as their relations to global DNA methylation (5mC). Materials and methods. Forty CD patients were enrolled in the study with an average age of (36.60 ± 2.03) years (range between 15 and 60). The diagnosis of the disease was confirmed by serological examinations and intestinal endoscopy in Gastroenterology and Liver Teaching Hospital in the Medical City Hospital in Baghdad

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Publication Date
Tue Aug 15 2023
Journal Name
Bionatura
Gene expression of a nitrogen tolerance gene ZmNR1 under the influence of different levels of nitrogen in maize
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A field experiment was carried out in the College of Agricultural Engineering Sciences - University of Baghdad, during the fall season of 2021 to find out which cultivated cultivars of maize are efficient under nitrogen fertilization. The experiment was applied according to an RCBD (split-plot design with three replications). The cultivars of the experiment (Baghdad, 5018, Sarah) supply three levels of nitrogen fertilizer, which are N1 (100 kg.N/ha), N2 (200 kg.N/ha) and N3 (300 kg.N/ha). The statistical analysis results showed the superiority of the Sarah genotype, which gave the highest value of SOD and CAT enzymes, reaching 11.59 units mg-1 and 10.76 units mg-1 . Protein sequentially, while cultivar5018 outperformed as it gave th

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Publication Date
Thu Oct 01 2020
Journal Name
Sys Rev Pharm
Role of plant growth regulators in gene expression of SGR gene responsible for stay green of wheat varieties
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A field experiment was carried out during winter season of 2019-2020 at Al-Mhanawyah Research Station - Agriculture Research Directorate - Babylon Governorate / Iraqi, to study the gene expression of Sgr gene responsible for controlling the duration of staying green in varieties of wheat under effect of plant growth regulator during the two growth stages (vegetative and reproductive) by using quantitative reverse transcription-PCR (RT-qPCR) technique and achieving the highest grain yield for a number of wheat varieties. Randomized complete block design (RCBD) arranged according to split plots used with three replicates. The experiment included twelve wheat varieties (Saberbic, Al-Rasheed, Iraq, Tamoz-3, Al-Adnaniya, Babel, IPA-99, Al-Latife

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Publication Date
Tue Jun 11 2019
Journal Name
Al-kindy College Medical Journal
Indications of Intravitreal Injection of Bevacizumab in a sample of Iraqi patients
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Background: Anti-vascular endothelial growth factors commonly used intravitreally for treatment of variable retinal disease worldwide, which help to regulate the upregulation of vascular endothelial growth factors due to ischemia or/and other retinal insult.

Objective: To review all cases of intravitreal bevacizumab given in the retinal unit of the Eye Specialty Private Hospital in Iraq from December 2015 to June 2016, pointing out the common indications.

Methods: A retrospective study including all cases of intravitreal injections of bevacizumab recorded at the Eye Specialty Private Hospital from December 2015 to June 2016 were retrieved. Age, sex, laterality, diagnosis

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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 Dec 14 2016
Journal Name
Journal Of Baghdad College Of Dentistry
Assessment of Cysts and Cystic-Like Lesions of the Jaws and Their Effect on Adjacent Structures by Using Cone Beam Computed Tomography (CBCT)
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Background: Preoperative radiographical assessment of the maxillofacial lesions is of a great importance in guiding the surgeon during surgical procedure in reducing post-operative complications. This study highlighted the application of CBCT scan in the assessment of maxillofacial cystic and cystic like lesions as a part of advanced radiology Materials and methods: A total of 20 patients (15 males and 5 females) participated in this prospective study. CBCT scan (Kodak 9500 CBCT) with (DICOM) software utilized to perform scanning to all patients in order to assess lesion extension, morphological features and it’s relation to the adjacent vital structures. Results: In this study, the total cystic and cystic like lesions involving the

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Publication Date
Tue Mar 30 2021
Journal Name
Baghdad Science Journal
Diversity Assessment by Molecular Barcoding and Seed Morphology in Ricinus communis L.: Molecular diversity of Ricinus seeds
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Fourteen morphologically varied Ricinus communis L. seeds were collected from different localities in Egypt, El-Sudan and Saudi Arabia. Seed morphology and ITS barcoding analysis were performed to assess their diversity and phylogenetic relationship. Sequence’s alignment of nrITS region from different accessions display high levels of genetic similarities. Cluster analysis could not group different accessions according to their geographical distribution. Nevertheless, the genetic barcodes are interestingly matched with the morphological features of the Ricinus seeds. In conclusion, seed morphology proved to be a valuable tool in evaluating biodiversity and phylogenetic relationship in plant species with different loca

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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
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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