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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
Fri Sep 15 2023
Journal Name
History Of Medicine
The multifaceted role of Dectin-1 and Card9 in inflammatory bowel disease Iraqi patients
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The study aimed to investigate the role of Dectin-1 and Card-9 in pathogenicity of inflammatory bowel disease (IBD). This investigations involved 150 blood samples for IBD patients which divided in to two groups (50 for crohns disease CD (G2) and 50 for ulcerative colitis UC (G3)). All a apparently (male and female) attended to) Al-Kindy hospital) in Baghdad city, department of Gastroenterology. and all of thin were diagnosis by consulters medical staff and pathologists with age range 15-65years average 40 years. in addition to 50 blood samples were collected from apparently healthy individuals as control group (G1). 10 ml were withdrawn from all participants, 5ml for the immunological study which carried by ELISA technique and 5 ml used fo

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Publication Date
Tue Aug 30 2022
Journal Name
Research Journal Of Pharmacy And Technology
Status of HBeAg in association with other baseline tests in Iraqi patients with CHB
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Chronic Hepatitis B(CHB) is a serious sequel after Hepatitis B Virus infection, although the rate of chronicity is inverse with age but it may be associated with a significant proportion of deaths related to cirrhosis and liver cancer. HBV serology and measurement of hepatocytic enzymes with viral load can predict disease prognosis and response to treatment. HBeAg refers to a high viral replication and associated with more infectivity to others. This study aimed to determine the impact of HBeAg status in chronically infected patients on various baseline tests. A total of 90 patients with CHB infection who were included in this study. Several standardized measures used for liver function tests, viral load and hepatitis B serological

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Publication Date
Tue Sep 08 2020
Journal Name
Baghdad Science Journal
Prevalence and Characterization of Some Colibactin Genes in Clinical Enterobacteriaceae isolates from Iraqi Patients
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The members of the family of Eentrobacteriaceae harbour a gene cluster called polyketide synthase (pks) island. This cluster is responsible for the synthesis of the genotoxin colibactin that might have an important role in the induction of double-strand DNA breaks, leading to promote human colorectal cancer (CRC). Eleven out of the eighty eight isolates (12.5%) were pks+, distributed as 7 (8%) isolates of E. coli, 2 (2.25%) of K. pneumoniae and 2 (2.25%) of E. aerogenes. The cytotoxic effects of selected pks+ isolates (E. coli and E. aerogenes) on HeLa cells were represented by decreasing cell numbers and enlarged cell nuclei in comparison to the untreated cells. Cytological changes were observed when the infected HeLa cells culture

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Publication Date
Tue Sep 08 2020
Journal Name
Baghdad Science Journal
Prevalence and Characterization of Some Colibactin Genes in Clinical Enterobacteriaceae isolates from Iraqi Patients
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The members of the family of Eentrobacteriaceae harbour a gene cluster called polyketide synthase (pks) island. This cluster is responsible for the synthesis of the genotoxin colibactin that might have an important role in the induction of double-strand DNA breaks, leading to promote human colorectal cancer (CRC). Eleven out of the eighty eight isolates (12.5%) were pks+, distributed as 7 (8%) isolates of E. coli, 2 (2.25%) of K. pneumoniae and 2 (2.25%) of E. aerogenes. The cytotoxic effects of selected pks+ isolates (E. coli and E. aerogenes) on HeLa cells were represented by decreasing cell numbers and enlarged cell nuclei in comparison to the untreated cells. Cyt

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Publication Date
Fri Apr 29 2022
Journal Name
Iraqi Journal Of Agricultural Sciences
RECURRENT OF TMPRSS2 GENETIC POLYMORPHISM AND ITS ROLE IN IRAQI PATIENTS WITH PROSTATE CANCER
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The role of transmembrane protease serine 2(TMPRSS2) in prostate carcinogenesis relies on overexpression of ETS transcription factors. The aim of this article was to investigate the association of TMPRSS2 polymorphism (rs12329760 (C\T)) with prostate cancer (PCa) in sample of Iraqi patients. One hundred and two individuals were involved in this study for the period from February – 2019 to February – 2020. The sample type was formalin fixed paraffin embedded tissue samples (FFPE), which involved  fifty-six samples of pre-diagnosed patients with prostate cancer, aged between 48 and 86 years, and forty-six samples were found to be controls (healthy group) dependent on Prostate Gland integrity, which is the same age as in a group o

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Publication Date
Sat Nov 10 2018
Journal Name
Iraqi National Journal Of Nursing Specialties
Prevalence of Anxiety and Depression Among the Iraqi Repatriated Prisoners of the Iran-Iraq War, 1980-1988
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Objective: To find out the prevalence of anxiety and depression among Iraqi repatriated prisoners of Iran-Iraq war
(IRPOWs), and the relationship with some variables.
Methodology: A descriptive study was carried out from Oct. 18th, 2009 through Jan. 10th, 2010. A Snowball
sampling as a non-probability sampling technique was used to recruit 92 repatriates who had visited Ministry of
Human Rights. An instrument was constructed for this purpose. The constructed instrument consisted of six
demographic characteristics, and fourteen items to measure the level of anxiety and depression in prisoners of
war (POWs). Data were collected with using the constructed instrument and the process of the interview as means
for data col

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Publication Date
Tue Jun 20 2023
Journal Name
Baghdad Science Journal
Determination of Molecular Weight and Viscosity of Irradiated Polystyrene
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The varied applications of polystyrene in various fields of life led to examining the cause of radiation influence on some rheological behavior of commercial Polystyrene (PS) solution in the chloroform (CHCl3) solvent. Polystyrene grains shape samples were irradiated using the radioactive element Cesium- 137 with (9 µci) activity for 10, 20, and 30 minutes. The viscosity of the polymer solution depends on the concentration and size (i.e. molecular weight) of the dissolved polymer. Experimental data showed that the radiation dose affected the value of viscosity (shear, relative, specific, and reduced). The viscosity value significantly reduced at 10 min radiation dose and when increasing the dose, the viscosity value increased

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Publication Date
Wed Jan 01 2014
Journal Name
Current Research In Microbiology And Biotechnology
Cytogenetic Analysis for the Effect of Alcoholic and Water Extracts of Iraqi Propolis in Mice
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This study was conducted to study the cytogenetic effect of both alcoholic and water extracts of propolis on mice. Three different samples of propolis were collected from three different regions of Iraq (Najaf, Arbil and Baghdad) to be used in this study. The cytotoxic effect of two different doses of each extracted sample was measured by employing cytogenetic analysis which included (mitotic index (MI), chromosomal aberrations (CAs), micronucleus index (MN) and sperm abnormalities). Results showed that significant increase in MI and significant reduction in MN, CAs and sperm abnormalities percentage were seen after treatment with both alcoholic and water extract of the three samples when compared with negative control, and alcoholic extrac

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Publication Date
Tue Mar 01 2011
Journal Name
Journal Of Economics And Administrative Sciences
Measurement and analysis of the production function of the transport sector in the Iraqi economy
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Transportation Sector classified as one of the services sectors which is without the production activities cannot be complete its rule. Is act asmoving actions which operate at production and non production goals for the organization and individuals insides the country and with others, that is why this sector act as one of the main which is occupied an important status on the way the economic activities and on the level of the economic institutions the transportation work on transforming all the commodities and products from productions locations to consumption location then its effect the productivity process and create the location utility and on the level of economic it considered as one of the economic supportive structure an

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Publication Date
Sun Jun 01 2014
Journal Name
Baghdad Science Journal
The role of TNF-? in the pathogenesis of multiple myeloma “a study in Iraqi patients”
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During recent years, there has been an increasing interest in the investigation of the cytokines roles in pathogenesis of cancer, thus the study aimed at evaluating the level of tumor necrosis factor-alpha(TNF-?) in sera of Iraqi multiple myeloma (MM) patients. Beta 2-microglobulion (?2-m) was assessed to determine if there was any association between this cytokine and the level of ?2- m, as the latter is related to the stage of the disease. In addition, the age and gender were also taken into consideration. Furthermore, we investigated the relationship between IgG and TNF-? in sera of patients. 49 Iraqi patients (27 males and 22 females).The patients were also divided into two groups: the first group included (17) patients who were

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