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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
Thu Jul 04 2024
Journal Name
Pakistan Journal Of Life And Social Sciences
Analysis of Kidney Amino Acids in Iraqi Pin-Tailed Sandgrouse Pterocles Alchata Bird
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The amine group (NH2) and the carboxyl group (COOH-) are the fundamental components of amino acids. They regulate several essential physiological functions of organisms and are found in all forms of life, including humans, plants, and microorganisms. Furthermore, they serve as vital energy sources and also act as neurotransmitters. An analysis of the kidneys of Pterocles alchata, an Iraqi Pin-tailed sandgrouse, revealed the presence of 18 specific amino acids. The data indicate that there were no significant differences in the total amounts of amino acids among the three renal lobes. The concentrations in the anterior, middle, and posterior lobes were measured to be 14.154 ą97. 273, 12.437 ą87. 255, and 11.882 ą88. 157 correspondingly, w

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Publication Date
Sat Aug 17 2024
Journal Name
Al-rafidain Journal Of Medical Sciences ( Issn 2789-3219 )
Analysis of Follicular Fluid Fatty Acids in Iraqi Women Undergoing Intracytoplasmic Sperm Injection
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Background: Oocytes are susceptible to alterations in the various fatty acid contents of follicular fluid (FF), which may influence maturation and embryogenesis. Different fatty acids exert various effects on intracytoplasmic sperm injection (ICSI), which needs further studies to uncover the involved mechanisms. Objectives: To assess FF fatty acids in women undergoing ICSI and to correlate them with ICSI parameters, namely the total count of aspirated oocytes, oocyte maturation rate, fertilization rate and percentage of good-quality embryos. Methods: Fifty women undergoing ICSI were enrolled in this cross-sectional study. FF samples were collected during oocyte retrieval and were analyzed for fatty acids using gas chromatography. Fa

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Publication Date
Sat Aug 17 2024
Journal Name
Al-rafidain Journal Of Medical Sciences ( Issn 2789-3219 )
Analysis of Follicular Fluid Fatty Acids in Iraqi Women Undergoing Intracytoplasmic Sperm Injection
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Background: Oocytes are susceptible to alterations in the various fatty acid contents of follicular fluid (FF), which may influence maturation and embryogenesis. Different fatty acids exert various effects on intracytoplasmic sperm injection (ICSI), which needs further studies to uncover the involved mechanisms. Objectives: To assess FF fatty acids in women undergoing ICSI and to correlate them with ICSI parameters, namely the total count of aspirated oocytes, oocyte maturation rate, fertilization rate and percentage of good-quality embryos. Methods: Fifty women undergoing ICSI were enrolled in this cross-sectional study. FF samples were collected during oocyte retrieval and were analyzed for fatty acids using gas chromatography. Fa

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Publication Date
Thu Jan 13 2011
Journal Name
Tikrit Journal Of Agricultural Sciences
ESTIMATION OF GENE ACTION AND GENETIC PARAMETERS FOR SOME CHARACTERS OF YIELD AND ITS COMPONENTS IN SUMMER SQUASH (Cucurbita pepo L.) BY USING MEAN GENERATION ANALYSIS
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An experiment was carried out in the vegetables field of Horticulture Department / College of Agriculture / Baghdad University , for the three seasons : spring and Autumn of 2005 , and spring of 2007 , to study the type of gene action in some traits of yield and its components in summer squash crosses (4 x 3 = cross 1 , 3 x 7 = cross 2 , 3 x 4 = cross 3 , 3 x 5 = cross 4 , 5 x 1 = cross 5 , 5 x 2 = cross 6). The study followed generation mean analysis method which included to each cross (P1 , P2 , F1 , F2 , Bc1P1 , Bc1P2) , and those populations obtained by hybridization during the first and second seasons. Experimental comparison was performed in the second (Two crosses only) and third seasons , (four crosses) by using RCBD with three repl

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Publication Date
Wed Oct 16 2019
Journal Name
International Journal Of Research In Pharmaceutical Sciences
Depression, Anxiety and Stress Among a Sample of Chronic Hepatitis C Patients in AL-Najaf Province /Iraq
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Previous studies in Euro-American countries have shown that patients with chronic hepatitis C virus infection have increased levels of neuropsychiatric symptoms. While chronic hepatitis C virus infection has been reported in Arab countries such as Iraq, there is little studies about the neuropsychological burden associated with chronic hepatitis C among patients in the Arab region. The aim of the current study was to measure the prevalence and level of severity of depression, anxiety and stress among a sample of chronic hepatitis C patients in AL-Najaf province /Iraq. The current study was cross-sectional study carried out on (110) already diagnosed chronic viral hepatitis C patients who attended the Gastroenterology and Hepatology

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Publication Date
Sun Jul 02 2023
Journal Name
Journal Of Pakistan Association Of Dermatologists
The frequency of acute radiodermatitis and associated risk factors among patients with breast cancer treated by radiotherapy
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Background: Acute radiodermatitis is a common side effect during and after radiotherapy course in breast cancer patients treated by radiotherapy. This study assess the frequency of acute radiodermatitis and record the predictive factors for acute radiodermatitis. Patients and Methods: A descriptive case series study conducted at Baghdad, Iraq from August 2020 to September 2021. 70 female scheduled for radiotherapy sessions enrolled in this study. sociodemographic data were recorded and Skin examination before radiotherapy and weekly till the end of the radiotherapy sessions was done to report the frequency, risk factors, clinical picture and grades of acute radiodermatitis based on The National Cancer Institute’s Common Terminology Crite

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Publication Date
Tue Jan 09 2018
Journal Name
International Journal Of Medical Research & Health Sciences
Assessing the Period between Diagnosis of Breast Cancer and Surgical Treatment among Mastectomized Female Patients in Iraq
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Introduction: Breast cancer is the most common cancer and the major cause of cancer related deaths among Iraqi women. Due to the relatively late detection of breast cancer, the majority of the patients are still treated by modified radicle mastectomy. Aim: To assess the time lag between diagnosis of breast cancer and mastectomy among Iraqi patients; correlating the findings with other clinicopathological characteristics of the disease. Patients and methods: This retrospective study enrolled 226 Iraqi female patients who were diagnosed with breast cancer. Data were registered on the exact time period between signing the histopathological report and the surgical treatment. Other recorded variables included the age of the patients, their level

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Publication Date
Mon Jul 01 2019
Journal Name
International Journal Of Medical Research & Health Sciences
Assessing the Period between Diagnosis of Breast Cancer and Surgical Treatment among Mastectomized Female Patients in Iraq
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Introduction: Breast cancer is the most common cancer and the major cause of cancer related deaths among Iraqi women. Due to the relatively late detection of breast cancer, the majority of the patients are still treated by modified radicle mastectomy. Aim: To assess the time lag between diagnosis of breast cancer and mastectomy among Iraqi patients; correlating the findings with other clinicopathological characteristics of the disease. Patients and methods: This retrospective study enrolled 226 Iraqi female patients who were diagnosed with breast cancer. Data were registered on the exact time period between signing the histopathological report and the surgical treatment. Other recorded variables included the age of the patients, their level

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Publication Date
Sat Sep 15 2018
Journal Name
Journal Of Baghdad College Of Dentistry
Impact of Glycated Haemoglobin on salivary glucose among type 1 diabetic mellitus patients aged 18-22 years
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Background: Diabetes mellitus consists of a group of diseases characterized by abnormally high blood glucose levels. Glycated haemoglobin (HbA1c) is a form of haemoglobin used to identify the average concentration of plasma glucose over prolonged periods of time. It is formed in a non-enzymatic pathway by normal exposure of hemoglobin to high levels of plasma glucose, The main alterations observed in the saliva of Type 1 diabetic patients are hyposalivation and alteration in its composition, particularly those related to the levels of glucose. The aim of the present study was to assess the effect of Glycated haemoglobin level on the level of salivary glucose which may have an effect on oral health condition. Materials and methods

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