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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
Thu May 05 2022
Journal Name
Al-kindy College Medical Journal
Evaluation of podophyllin and Trichloroacetic acid for the treatment of genital warts in Iraqi female patients
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Background: human paillomavirus infections (genital warts) are the most frequent sexually transmitted viral infections. a wide range of treatment options is available with different efficacy.

Objective: To evaluate the efficacy of podophyllin, trichloracetic acid (TCA) in the treatment of genital warts and side effects of them.

Subjects and methods: a total of sixty patients with genital warts were randomly selected, 30 in each group, in the Department of Dermatology, medical city for a Duration of 11 months from January 2009 to December 2009 treated with 35 % podophyllin in the tincture of benzoin or 50%  TCA) .Forty-eight patients were followed up for three months.

Results: wart

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Publication Date
Thu Apr 01 2021
Journal Name
Biochemical And Cellular Archives
STUDY OF LYSYL OXIDASE-1 AND KIDNEY FUNCTION IN SERA OF IRAQI PATIENTS WITH DIABETIC NEPHROPATHY
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This study aimed to compare lysyl oxidase-1 level in diabetic patients with and without renal dysfunction, that LOX-1 may be an indicator for the early stage of diabetic nephropathy (DN). In addition to finding it is a relationship with kidney functions in Iraqi diabetic patients with and without renal dysfunction. Blood was obtained from 25 healthy individuals as a control group (G1), 25 diabetic patients with renal dysfunction, and 25 diabetic patients without renal dysfunction. Age range 40-60 years for all subjects. BMI (25-27) Kg/m2 . The serum was used for the analysis of LOX-1, FBG, urea, creatinine and uric acid. Whole blood is used for the determination of HbA1C. Results of FBG and HbA1C revealed a significant increase in G2 and G

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Publication Date
Wed Sep 14 2016
Journal Name
Journal Of Baghdad College Of Dentistry
Radiological Assessment of Mandibular Retromolar Canal (MRMC) Using CBCT-Radiographs in a Sample of Iraqi Patients
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Background: Because of its clinical and surgical importance and lack of precise information about this rare and important anatomical landmark, this study was designed to detect the presence, configurations and length of Mandibular Retromolar Canal (MRMC) with aid of CBCT visualization. Materials and methods: In this retrospective study the data was obtained from Specialist Health Center in AL-Sadder city in Baghdad for (100) patients with 200 inferior dental canal, all of them referred to CBCT scan (Kodak 9500, French origin). The scanning was done with tube voltage 90 kVp, tube current with 10mA and exposure time was 10 s., the field of view was measured with 5cm x 3.7cmwith 0.03mm voxel size Results: In the present study the prevalence of

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Publication Date
Sat Jul 01 2023
Journal Name
Journal Of The Faculty Of Medicine Baghdad
Diagnostic and Predictive Values of IL-6 in a Group of Iraqi Patients with Rheumatoid Arthritis
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الخلفية: التهاب المفاصل الرَثَيَانِي أو الداء الرثياني أو الالتهاب المفصلي الروماتويدي هو مرض مزمن، من الأمراض الانضدادية التي تؤدي بالجهاز المناعي لمهاجمة المفاصل، مسببة التهابات وتدميرًا لها. ومن الممكن أيضًا أن يدمر جهاز المناعة أعضاء أخرى في الجسم مثل الرئتين والجلد. وفي بعض الحالات، يسبب المرض الإعاقة، مؤدية إلى فقدان القدرة على الحركة والإنتاجية. ويتم تشخيص المرض بواسطة تحاليل دم مخبرية مثل تحلي

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Publication Date
Sun Dec 01 2013
Journal Name
Baghdad Science Journal
Estimation of Testosterone, Estradiol and some Markers in Sera of Iraqi Patients with Benign Prostatic Hyperplasia.
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Benign prostatic hyperplasia (BPH) is one of the most common disease and major cause of morbidity in elderly men which may lead to bladder outflow obstruction and lower urinary tract symptoms (LUTS). Although sex steroid hormones play fundamental roles in prostate growth, their clinical significance is not completely clear. In the present study we assessed whether serum hormones levels as markers of prostate disease. This study includes (40) patients with benign prostatic hypertrophy and (40) control group with age rang (41-79) and (42-71) years respectively. The following biochemical investigations have been studied: Testosterone, Estradiol (E2), and Prostatic Specific Antigen (PSA) levels using ELISA method which correlated with t

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Publication Date
Mon May 09 2022
Journal Name
Biochemical And Cellular Archieve
INFLUENCE OF HUMAN LEUKOCYTE ANTIGEN HLA-DRB1 ON SUSCEPTIBILITY TO GIARDIA LAMBLIA INFECTION OF IRAQI PATIENTS
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Giardia lamblia is the worldwide most common intestinal protozoan parasite. It was indicated that Giardia is the most important agent that causes acute and chronic diarrhea in infants, young children and travelers. The aim was to detect the influence of host HLA alleles on the susceptibility to infection with G. lamblia in a sample of Iraqi patients. A total of (40) patients with giardiasis aged (14-39) years were registered. All of them were symptomatic and (40) healthy individuals matched age and sexes were included as controls. All patients were prepared to stool examination to detect G. lamblia and eliminated other pathogens, as well as human leukocyte antigen (HLA) class II alleles (DRB1) typing. The most common detected alleles in pat

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Publication Date
Sat Jun 14 2025
Journal Name
Journal Of Baghdad College Of Dentistry
The relation of salivary glucose with dental caries and Mutans Streptococci among type1 diabetic mellitus patients aged 18-22 years
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Background: Diabetic is a chronic systemic disorder of glucose metabolism. That could be diagnosed using fasting and/or random plasma glucose and Glycated Haemoglobin (HbA1c). Several biochemical and microbial alterations of saliva could affect dental caries occurrence and severity among diabetic patients. The aim of the present study was to assess the relation of salivary glucose with severity of dental caries and Mutans Streptococci, among uncontrolled and controlled diabetic groups in comparison with non-diabetic control group. Materials and Methods: The total sample composed of adults aged (18-22) years. Divided into 25 uncontrolled diabetic patients (HbA1c > 7), 25 controlled diabetic patients (HbA1c ≤ 7), in addition to 25 no

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Publication Date
Tue May 05 2020
Journal Name
Book
Study the inhibitory effect of miswak extract on biofilm gene.
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This book presents the problem of tooth decay due to bacteria Streptococcus mutans one of methods of treatment using 3 extracts of S. persica (miswak) (aqueous, acetone and methanol) and prove its effectiveness and its impact on the gtf (B, C, and D) genes that code the glucosyltransferase (Gtf) enzymes that cause decay membrane compared to the usual means used for the prevention of tooth decay

Publication Date
Wed Jan 01 2020
Journal Name
Plant Archives
Effect of some sugars on carbapenemase gene expression in Pseudomonasaeruginosa
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Forty eight isolates (41.02%) were obtained from 117 wound and burn samples. The isolates that showed high resistance for both antibiotic was two only that represent 4,1% from all isolates. The result of PCR product electrophoresis was referred that the gene is VIM gene. Lactose and raffinose showed double increasing in diameter of inhibition zone of imipenem with 1% that mean showed highest susceptibility that decreased with the concentration increasing, the same result were with meropenem. But no effect were detected on meropenem inhibition zone diameter. Mannose have no effect on the resistance in 1%, 3% and 7%. Results showed that only three case that increase the expression of gene, they were lactose at 1% concentration that increased

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Scopus
Publication Date
Tue Jan 24 2023
Journal Name
Euphrates Journal Of Agricultural Science
PCR-RFLP Analysis of Insulin-Like Growth Factor 2 Gene Polymorphisms in Two Commercial Broiler Chicken Strains (Cobb 500 and Hubbard F-15) and Their Associations with Performance Traits
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In two commercial broiler breeds (Cobb 500 and Hubbard F-15), the polymorphisms of the chicken insulin-like growth factor 2 (IGF2) gene were studied. A total of three hundred avian blood samples were obtained. Using a fast salt-extraction technique, genomic DNA was isolated. Using polymerase chain reaction, 1146 bp fragments of the gene were amplified (PCR). The amplified fragments were subjected to restriction enzyme digestion using HinfI endonuclease enzyme, and the digested products were separated on a 2% agarose gel. The findings indicated two alleles T and C for the target locus, with respective frequencies of 73.3% and 26.7%. Three distinct genotype variations, TT, TC, and CC, were found, with genotype frequencies of 59.1 percent, 28.

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