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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
Sun Jun 21 2020
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Health-Related Quality of Life among a Sample of Chronic Hepatitis B Patients in AL-Najaf Province /Iraq.
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Abstract

The effect of physical and mental health on the feelings of personal welfare are known as health-related quality of life. Infection with hepatitis B virus is a major global health problem. Health-related quality of life was emerged as an important consideration in the care of patients with chronic hepatitis B infection. The aim of the current study was to measure health-related quality of life among a sample of chronic hepatitis B patients in AL-Najaf city/Iraq. The current study was cross-sectional study carried out on (104) already diagnosed chronic viral hepatitis B patients who attended the Gastroenterology and Hepatology Center/Al-Sader Medical City/Najaf during November 2018 to May

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Publication Date
Mon Dec 25 2017
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Knowledge, Attitudes and Barriers Towards Breast Cancer Health Education Among Iraqi Community Pharmacists
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With the increasing prevalence of breast cancer among female internationally, occupies about 25% of all cases of cancer, with a measured 1.57 million up to date cases in 2012. Breast cancer has turn a most warning to health of female in Iraq, where it is the major cause of death among women after cardiovascular diseases, with a mortality rate of 23% related cancer. Recently there is a crucial requirement to include community pharmacists in health elevation activities to support awareness and early diagnosis of cancer, specially breast cancer. The aim of this study is to assess knowledge, attitude and perceived barriers amongst Iraqi community pharmacists towards health promotion of breast cancer. This study is cross sectional research. A

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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
Mon Jul 01 2013
Journal Name
Journal Of The Faculty Of Medicine Baghdad
Evaluation of the new marker interleukin - 33 in Iraqi female patients with hyperthyroidism
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Background: Hyperthyroidism refers to overactive of thyroid gland leading to excessive synthesis of thyroid hormones and accelerated metabolism in the peripheral tissue. Objective: The aim of this study is to evaluate a new member of the IL-1 super family of cytokines interleukin-33(IL-33) levels in serum .in order to evaluate its utility as clinical bio marker of autoimmune disease (i.e. hyperthyroidism) Methods: The present study was conducted on 30 patients from the Iraqi female patients with hyperthyroidism attending Baghdad teaching hospital, in addition to 30 healthy controls. All subjects were (35-65) years old. Parameters measured in the sera of patients and healthy groups, were interleukin -33 (IL-33), Thyroxin (T4), Thyroxin (T3)

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Publication Date
Thu Jan 07 2016
Journal Name
Ibn Al-haitham Jour. For Pure & Appl. Sci.
Determination of Some Trace Element Levels in Iraqi Male patients with Colorectal Cancer
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Alterations of trace element concentrations adversely affect biological processes and could promote carcinogenesis. Trace element deficiency or excess is implicated in the development or progression of some cancers like colorectal cancer. The aim of the present study was to compare the serum copper (Cu) and zinc (Zn) concentrations in patients with colorectal cancer from Iraqi male patient with those of healthy subjects. During the period of March 2015 until august 2015, a total of 25 patients with metastatic colon cancer and 20 healthy volunteers were enrolled from the Al-Kadhimia Teaching Hospital after the diagnosis using a histopathological examination for the malignant tumor; their age was between (38-60) years. Higher levels o

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Publication Date
Mon Jan 01 2018
Journal Name
Iosr Journal Of Pharmacy And Biological Sciences
Seroprevalence of Hepatitis B markers in Iraqi patients with chronic Hepatitis B virus
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To determine the seroprevalence of hepatitis B markers in chronic hepatitis B patients, 75 patients with chronic hepatitis B virus of ages (8-70) years have been investigated and compared with 50 apparently healthy individuals. All the studied groups were carried out to measure (HBsAg), (HBsAb), (HBeAg), (HBeAb), and (Total HBcAb) by Enzyme linked immunosorbent assay (ELISA) technique. The percentage distribution of HBsAg was (86.67%) and HBsAb was (1.33%) in sera of CHB patients and there were a highly significant differences (P<0.01) when compared between studied groups, while, the percentage distribution of HBeAg was (22.67%) in sera of CHB patients and the significant represent the difference in distribution of HBeAg as infection but no

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Publication Date
Sun Dec 30 2012
Journal Name
Al-kindy College Medical Journal
A typical clinical presentation of molluscum contagiosum in Iraqi patients;clinical descriptive study
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Background Molluscum contagiosum is skin disease caused by the molluscum contagiosum virus (MCV) usually causing one or more small dome shaped umbilicated papules with symptoms that maybe self-resolve. MCV was once a disease primarily of children, but it has evolved to become a sexually transmitted disease in adults. It is believed to be a member of the pox virus family. In addition to the classic presentation of the disease; it can also come in different clinical forms that simulate large number of dermatolological disease.
Objective: To study different clinical forms of Molluscum contagiosum presentation in different age groups of Iraqi patients.
Method:This clinical descriptive study was performed in the outpatient department of

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Publication Date
Tue Jan 01 2019
Journal Name
Annals Of Tropical Medicine And Public Health
Arlyesterase activity of Paraoxonase-1 enzyme in Iraqi patients with β-thalassemia minor
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Background: Arylesterase activity of Paraoxonase-1 (ARE-PON-1) exhibits an antioxidant role which protects lipoprotein from oxidation. It is known that ARE-PON-1 antioxidant activity associated with high density lipoprotein cholesterol (HDL-C) reduces the oxidative damage mediated by low density lipoprotein cholesterol (LDL-C). The present study was aimed to examine the level of serum ARE-PON1 in Iraqi patients with β-thalassemia minor and its relationship with lipid profile (total cholesterol (TC), HDL-C, very low density lipoprotein (VLDL-C), and LDL-C) and hematologic changes as a part of antioxidant system action. Methods: In the present study, the ARE-PON-1 activity was investigated in serum of patients with β-thalassemia minor. Resu

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Publication Date
Mon Jan 01 2018
Journal Name
Ibn Al-haitham Jour.for Pure & Appl.sci.
Determination of Osteocalcin, Bone Alkaline Phosphatase, and Lysyl Oxidase in Iraqi Acromegalic Patients
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This study was aimed to determine bone formation markers (OST and BALP) and lysyl oxidase in diabetes and non-diabetes Iraqi acromegaly patients in addition to find the relationship among these parameters. The present study conducted 60 acromegalic patients (30 diabetes & 30 non diabetes) attending National Diabetes Center / AL-Mustansiriya University/Baghdad, and 30 healthy individuals as a control group aged (35-60) years. All patients were administrated Sandostatin drug, and they were diagnosed by physician in the hospital.FBG, GH, IGF-1, OST, BALP, and LOX were determined in all groups. The results showed a highly significant rise in all parameters (GH, IGF-1, FBG, OST, BALP, and LOX values in serum of all patients when compared with n

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