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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 Dec 20 2023
Journal Name
Discourse And Interaction
Refusal and politeness strategies favoured among Iraqi and Malaysian learners in marriage proposals
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The study targets exploring the similarities and differences between Iraqi and Malaysian learners of English in refusing marriage proposals. Also, it examines the favored politeness strategies that learners use to protect their interlocutors’ face, heeding both their social distance and status. Data were gathered by a Discourse Completion Task (DCT) which contained six marriage situations. Responses were analyzed based on Beebe et al.’s (1990) refusal taxonomy and Scollon et al.’s (2012) politeness system. The findings indicated that both the Iraqi and Malaysian learners preferred the indirect refusal strategies in marriage proposals, as well as the hierarchical politeness in the form of independence strategies regardless of t

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Publication Date
Wed Dec 20 2023
Journal Name
Discourse And Interaction
Refusal and politeness strategies favoured among Iraqi and Malaysian learners in marriage proposals
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The study targets exploring the similarities and differences between Iraqi and Malaysian learners of English in refusing marriage proposals. Also, it examines the favored politeness strategies that learners use to protect their interlocutors’ face, heeding both their social distance and status. Data were gathered by a Discourse Completion Task (DCT) which contained six marriage situations. Responses were analyzed based on Beebe et al.’s (1990) refusal taxonomy and Scollon et al.’s (2012) politeness system. The findings indicated that both the Iraqi and Malaysian learners preferred the indirect refusal strategies in marriage proposals, as well as the hierarchical politeness in the form of independence strategies regardless of t

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Publication Date
Sun Jan 01 2023
Journal Name
2nd International Conference On Mathematical Techniques And Applications: Icmta2021
Review of clustering for gene expression data
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Publication Date
Mon Jun 03 2024
Journal Name
Journal Of Kufa For Chemical Sciences
Biochemical Role of Blood Electrolytes in Old Iraqi Patients with COVID-19
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Background: Age progression is regarded as a critical risk factor in morbidity and mortality because of a weakened immune system. Although various studies have dealt with electrolyte imbalance in COVID-19 patients, the outcomes of these studies were partially understood. Objective: The current study aims to determine some biochemical parameters in old Iraqi COVID-19 patients and highlight the outcomes according to the aging role in the development of COVID-19 by suggesting new mechanisms. Materials and methods: forty COVID-19 patients were enrolled in the current study and divided into two groups: Gm includes (20) men, and Gf includes  (20) women. The parameters (Na+, K+, Cl-, LDH, and Hb ) were determined in sera of patients and c

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Publication Date
Fri Oct 01 2010
Journal Name
Saudi Pharmaceutical Journal
Comparative clinical evaluation of ketotifen and montelukast sodium in asthmatic Iraqi patients
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Publication Date
Mon Jan 01 2018
Journal Name
Journal Of Clinical And Diagnostic Research
Immunohistochemical Expression of HER2/neu Receptors in Iraqi Patients with Endometrioid Carcinoma
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Introduction: With the advent of era of targeted cancer therapy, the serious side effects of chemoradiotherapy have been minimised. Considering the success story of anti-HER2/neu drugs in breast cancer oncology, the present study was conducted. The study evaluates the immunohistochemical expression of HER2/neu in endometrioid cancer among Iraqi patients. Aim: To assess the immunohistochemical expression of HER2/neu in endometrioid carcinoma of uterus and to find the relationship of this expression with FIGO stage and grade and with patient age. Materials and Methods: In this cross sectional study, formalin-fixed, paraffin-embedded tissue blocks of 62 hysterectomy specimens that were diagnosed as endometrioid carcinoma in the teaching labora

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Publication Date
Wed Jul 05 2017
Journal Name
International Journal Of Science And Research (ijsr)
Hyperglycosylated hCG in a Group of Iraqi Patients with Gestational Trophoblastic Disease
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Background : Hyperglycosylated hCG a newly discovered variant of hCG which can be used as a predictor of invasion of trophoblastic cells in patient with gestational trophoblastic disease. Objectives : To measure hyperglycosylated human chorionic gonadotrophin and to assess how far it can be used as predictor of invasion in invasive mole and choriocarcinoma. Study design control study. Setting: : Case Gynecological department in Baghdad Teaching Hospital from January 2016 to January 2017. Patient and Methods : 60 women were enrolled in this study 30 of them were with gestational trophoblastic disease (no.= 30 ) the remainder were normal pregnancy (no. =30) , hCG –H level was measured in both groups. Results : Mean serum hCG-H le

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Publication Date
Tue Jan 01 2019
Journal Name
Indian Journal Of Forensic Medicine &amp; Toxicology
Immunohistochemical Assessment of SOX2 Expression in Iraqi Patients with Gastric Carcinoma (GC)
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Objective: To evaluate whether the SOX2 protein could be used as a predictor in patients with GC and to assessment the correlation between the IHC expression of the SOX2 protein and the various clinic pathological Parameters as age, sex, histopathological subtypes, grade and stage of the tumor by immune-histochemical Technique. This is a retrospective study conducted on 60 randomly selected patients (30) normal versus (30) GC, at the pathology department of the Gastroenterology and Hepatology Teaching Hospital & some private hospitals. It were collected and diagnosed during the period between from 2014 to 2018. From each block were stained with H&E and IHC stained for SOX2. The Statistical analysis was done using SPSS system, and the differ

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Publication Date
Fri Jan 26 2024
Journal Name
Iraqi Journal Of Science
Distribution of Methicillin Resistant Staphylococcus aureus in Iraqi patients and Healthcare Workers
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One hundred and six S. aureus were isolated from 250 Nasal swabs of
Healthcare workers and patients at Al- Kadhamia teaching Hospital and Al-
Numan hospital, Baghdad, Iraq. The study was undertaken over a period of
ten months between August 2011 and June 2012. S. aureus isolates were
diagnosed based on phenotypic traits and biochemical tests. Antibiotics
sensitivity to 11 antibiotics, revealed that S.aureus is totally resistant to
Pencillin G (100%), highly resistant to Cefoxitin (alternative to Methicillin)
(94.3%) While there are varied resistance percentage for the rest of
antibiotics: Erythromycin (37.7%), Tetracycline (34.9%), Gentamicin
(29.3%), Trimethoprim/sulfamethoxazole (50%), Ciprofloxacin (29.2%),<

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Publication Date
Thu Sep 15 2022
Journal Name
Bionatura
Assessment of lipid profile with HbA1c in type 2 diabetic Iraqi patients
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Insulin-induced hyperglycemia is the hallmark of diabetes mellitus (DM), including various metabolic disorders. Diabetic people are more likely to develop dyslipidemia, hypertension, and obesity. Type 2 diabetes ‎(T2DM), the most common illness, is generally asymptomatic in its early stages and can go misdiagnosed for years. Diabetes screening may be beneficial in some cases since early identification and treatment can lessen the burden of diabetes and its consequences.‎ This study aimed to find the relationship between Glycated hemoglobin (HbA1c) ‎and lipid profile components in T2DM‎ patients. This descriptive-analytical and cross-sectional study was performed on the control group and T2DM patients in ‎Medical City in Baghdad be

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