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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 Jul 30 2023
Journal Name
Iraqi Journal Of Science
Analysis of Acetylcholinesterase Gene Expression in Male Mice Exposed to Sublethal Dose of Endosulfan Pesticide
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     The aim of the current study was to investigate endosulfan effects on the Acetylcholinesterase (AChE) enzyme and gene in albino mice. Thirty selected male albino mice were randomly divided into 3 groups. The first group was control group (G1), while the other two treated groups were injected intraperitoneally twice per week with two doses of endosulfanG2 (3 mg/kg) and G3 (17 mg/kg) for 21 and 45 days respectively. The results recorded a significant decrease in AChE enzyme in the group treated with 17 mg/kg b.wt. (3986.67 ±170.32 U/L),compared to the control (5584.33 ±140.35 U/L)and treatment group with 3 mg/kg b.wt.(5556.00 ±341.01) U/L for 21 days. Also, there was a significant decrease in the enzyme level

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Publication Date
Tue Sep 08 2020
Journal Name
Baghdad Science Journal
Fat Mass and Obesity Association gene Polymorphism in PCOS Iraqi Women
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             Polycystic syndrome (PCOS) is a considerable infertility disorder in adolescents and adult women in reproductive age. Obesity is a vigorous risk factor related to POCS.  This study aims to evaluate the association of obesity and PCOS by investigating several parameters including:  anthropological, biochemical (lipid profile, fasting blood sugar, glucose tolerance test, and hormone levels (LH, FSH, LH/FSH ratio, Estradiol2 and Testosterone),and genetic parameters (Fat mass and Obesity associated gene (FTO) polymorphism at rs17817449) in 63 obese and non-obese PCOS women. The biochemical tests were investigated by colorimetric methods while FTO gene polymorphism was detected by PCR–RFLP.  Lipid profile, F

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Publication Date
Tue Sep 08 2020
Journal Name
Baghdad Science Journal
Fat Mass and Obesity Association gene Polymorphism in PCOS Iraqi Women
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             Polycystic syndrome (PCOS) is a considerable infertility disorder in adolescents and adult women in reproductive age. Obesity is a vigorous risk factor related to POCS.  This study aims to evaluate the association of obesity and PCOS by investigating several parameters including:  anthropological, biochemical (lipid profile, fasting blood sugar, glucose tolerance test, and hormone levels (LH, FSH, LH/FSH ratio, Estradiol2 and Testosterone),and genetic parameters (Fat mass and Obesity associated gene (FTO) polymorphism at rs17817449) in 63 obese and non-obese PCOS women. The biochemical tests were investigated by colorimetric methods while FTO gene polymorp

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Publication Date
Tue Sep 08 2020
Journal Name
Baghdad Science Journal
Fat Mass and Obesity Association gene Polymorphism in PCOS Iraqi Women
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             Polycystic syndrome (PCOS) is a considerable infertility disorder in adolescents and adult women in reproductive age. Obesity is a vigorous risk factor related to POCS.  This study aims to evaluate the association of obesity and PCOS by investigating several parameters including:  anthropological, biochemical (lipid profile, fasting blood sugar, glucose tolerance test, and hormone levels (LH, FSH, LH/FSH ratio, Estradiol2 and Testosterone),and genetic parameters (Fat mass and Obesity associated gene (FTO) polymorphism at rs17817449) in 63 obese and non-obese PCOS women. The biochemical tests were investigated by colorimetric methods while FTO gene polymorphism was detected by PCR–RFLP.  Lipid profile, F

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Publication Date
Sun May 15 2022
Journal Name
Al-kindy College Medical Journal
Impact of Tobacco Use in the Etiology of Chronic Renal Failure Among Sudanese Patients: Tobacco and Renal Failure Among Sudanese Patients
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Background: Chronic renal failure (CRF) is a clinical syndrome that occurs when there is gradual decline in renal operation overtime.

Objective: This study aims to investigate the prevalence of depression among medical students at university of Baghdad, college of medicine in Iraq and the association between some variables and depression.

Aim: This study aimed to identify the impact of tobacco use in the etiology of chronic renal failure among Sudanese patients in Omdurman Military Hospital and Omdurman Kidney Dialysis Center

Materials and methods: This descriptive community-based study was conducted in Khartoum State. A random sample of 100 cases with chronic renal failure and 100

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Publication Date
Wed Mar 10 2021
Journal Name
Baghdad Science Journal
incidence of vulvovaginal candidiasis among iraqi women
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this worl was carried oit on 50 woman they were attended to the gynecological out patinetand non albicans vared among age group

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Publication Date
Thu Feb 06 2025
Journal Name
Journal Of Baghdad College Of Dentistry
Expression of Ki67 and p53 as proliferation and apoptosis markers in adenoid cystic carcinoma
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Background: Adenoid cystic carcinoma (ACC) constitutes about 4% of salivary epithelial tumors and is the second common malignant epithelial salivary gland tumor involving both the major and minor salivary glands. Aims of the study is to evaluate immunohistochemical expression of Ki67 and p53 proteins in ACC. Materials and Methods: immunohistochemical analyses of fifteen cases of formalin – fixed paraffin – embedded tissues blocks of ACC of salivary glands using ki67 and p53 antibodies. Results: ki67 was expressed in 6 of 15 ACC (40%) while p53 aberration was demonstrated in 11 of tumor (73.3%). There was a statistically significant difference between the expression of ki67 and p53 proteins in ACC cases (p value = 0.041). Pearson’s cor

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Publication Date
Mon Jan 30 2023
Journal Name
Iraqi Journal Of Science
Diagnostic Efficiency of Heat Shocked Protoscoleces Extract Antigens for Human Cystic Echinococcosis by ELISA
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      Diagnosis of cystic echinococcosis is complex and has to be confirmed by the combination of immunological tests and imaging techniques. In this study heat shock proteins were induced and their immunoreactivity was assessed by ELISA.

Sera were collected from 34 hydatid patients who were admitted to the Rizgary Teaching Hospital through October 2013 to July 2017, in addition to 29 healthy donors and 18 non-hydatid cases. For heat shock response, two batches of 25000 protoscoleces (Ps) were incubated separately at 42°C and 45 °C for 4 hours. Heat treated and normal Ps were disrupted and the extracts were divided into two parts. One part was directly used as source of antigens (PE, PE42 and PE45) and the other one was par

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Publication Date
Fri Jan 26 2024
Journal Name
Iraqi Journal Of Science
Induce mutations for Bavistin resistance in Trichoderma harzianum by UV-irradation
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The present study was conducted to induce mutations by UV- light in Trichoderma harzianum for tolerance of Bavistin fungicides which are commonly used to control soil born phytopathogens. The mycelium growth of T. harzianum T1, T2 was inhibited completely by 30 μg (a.i.) /ml PDA of Bavistin. Two isolates of Trichoderma harzianum T1 and T2 conidia suspensions 104 conidia / ml were irradiated by UV lights at 254, 320, 365nm wavelength for 10, 20, 40, 80, 160 min using UV dark room cabinet and spectrophotometer and cultured on PDA media containing 50, 60, 75, 100, and 150 μg (a.i) / ml Bavistin. A thirty one unstable mutants tolerant to Bavistin were obtained after irradiation the T. harzianum T1, T2 conidia suspension 104 conidia / ml by

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Publication Date
Sat Dec 15 2018
Journal Name
Journal Of Baghdad College Of Dentistry
The relation of maxillary root apices and the maxillary sinus floor among patients with different skeletal patterns in Iraqi samples
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Background: Understanding the morphological characteristics between the floor of the maxillary sinus and the tips of the maxillary posterior roots is crucial in orthodontics involving diagnosis and treatment planning. The aim of this study was to evaluate the distances from the maxillary posterior root apices to the inferior wall of the maxillary sinus, thickness and density of maxillary sinus floor using cone-beam computed tomography images and the relationships between roots and maxillary sinus according to gonial angle and skeletal pattern. Materials and methods: Three-dimensional images of each root were checked, and the distances were measured along the true vertical axis from the apex of the root to the sinus floor, and the thickne

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