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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
Mon Aug 22 2022
Journal Name
Biochemical And Cellular Archives
Measurement of inflammation and oxidative stress biomarkers induced by cigarette smoke among Iraqi smokers.
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To determine the association between cigarette smoking and oxidative stress, a study was conducted in the period from January 2020 to April 2021, at College of Medicine, Al-Nahrain University, Baghdad, Iraq. The Enzyme-linked immunosorbent assay (ELISA) technique was utilized for measurement the antioxidant enzymes including: Glutathione superoxide (GPX) and catalase (CAT) and the biomarker of lipid peroxidation Malondialdehyde (MDA). Also, the gene expression of Nrf2 and HO-1were determined by using RT-PCR technique. The results indicate lower level of both GPX and CAT (p ≤ 0.001) in smokers compared with non-smokers. While the result of MDA indicate higher level in smokers (p≤0.001) compared with nonsmokers. The Nrf2 and HO-1 gene exp

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Publication Date
Wed Jun 01 2022
Journal Name
Jordan Journal Of Biological Sciences
Comparison of the Folate and Homocysteine Levels with A80G -RFC1 Gene Polymorphism between the Sample of Iraqi Children with and without Down Syndrome
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Many international studies indicated that the polymorphisms of some genes disturbed the folate homocysteine (Hcy) metabolism and increased the vulnerability to Down syndrome (DS). We aimed to measure the serum levels of folate and Hcy in DS children and compare the levels with age and sex-matched apparently normal healthy children. We also aimed to study the A80G polymorphism of the gene reduced folate carrier (RFC1) in the DS children as a risk factor. Forty children with DS (24 were boys, and 16 were girls) with the age range between 5-13 years, and 26 normal healthy children (16 boys and ten girls) were included in this study. The results show that the highest genotype in the control group was AG (53.85%) followed by AA and GG (30.

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Publication Date
Thu Sep 15 2022
Journal Name
Bionatura
Submission and Phylogenetical of Local Isolated Trichophyton interdigitale of Iraqi Patients in NCBI
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Dermatophytes are species with slight genetic variation, and are yet several uncertainties about the differences among species. This study aims to isolate and diagnose the Trichophyton interdigitale by molecular technique and to reveal the phylogenetic distance and similarity of the Iraqi isolates to other isolates from the globe, in addition, to submit the obtained sequences to the NCBI database. This study included 86 with multiple lesions on different parts of the body. The results showed different variations within the ITS gene between the isolates. It was concluded that Trichophyton interdigitale in Iraqi isolates had two types of substitution variations (Transition and Transversion) different than global isolates. Moreover, it

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Publication Date
Sun Sep 01 2013
Journal Name
Baghdad Science Journal
Biochemical Study of Gonad Hormones in Sera of Iraqi Patients with Thyroid Disorder
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The objective of this study was to evaluate the alteration in levels of gonado trophins hormones i.e.,Leutizing (LH),Follicular(FSH) in sera of patients with thyroid disorders and molecular binding study of (LH ,FSH) with their antibodies The study was conducted at the specialized center for endocrinology and diabetes from January / 2009 to March / 2010.Two hundreds and twenty three Iraqi subjects, 109 patients with thyroid disorders at age range between (40-50) years and 114 healthy individuals as control group were included in this study.The majority of patients were female with hyperthyroidism and (49.54 % ) were at age range between(40 - 50) years. The levels of hormones(LH,FSH.tri iodothyronine(T3).thyroxine(T4), thy

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Publication Date
Wed Aug 30 2023
Journal Name
Al-kindy College Medical Journal
Factors associated with Exacerbation of Myasthenia Gravis in a Group of Iraqi Patients
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Background: Myasthenia gravis is an autoimmune disease of the neuromuscular junction that results in fluctuating muscle weakness as well as significant fatigue. Disease exacerbation is a critical condition, and the predisposing factors for it need to be identified to improve preventive measures.

Objectives:  Our study aims to determine the predisposing factors for myasthenia gravis exacerbations in a group of Iraqi patients.

Subjects and Methods: A total number of 30 myasthenia gravis patients were admitted to the hospital with an exacerbation of their symptoms, determined as the development of functional disability, dysphagia, or respiratory fai

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Publication Date
Sun Jul 29 2018
Journal Name
Iraqi Journal Of Science
Incidence of Ciprofloxacin-Resistant of Methicillin Resistant Staphylococcus aureus isolated from Iraqi patients
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The resistance of Staphylococcus aureus to ciprofloxacin has complicated the problem of treating staphylococcal associated infections in which MRSA is the causative agent since ciprofloxacin was the drug of choice to treat such infections. Our study investigated the incidence of Ciprofloxacin resistant S. aureus isolates that were also methicillin resistant among Iraqi patients. The obtained bacterial isolates were tested for Ciprofloxacin resistance using agar dilution method and the sequence of gyrA and parC. The results revealed that about 8% of the isolated MRSA strains were Ciprofloxacin resistant and the resistance was due to mutation in gyrA rather than parC.

Publication Date
Sat Jan 01 2022
Journal Name
Malaysian Journal Of Medicine And Health Sciences
Severity of Coronavirus Disease 19: A Profile of Inflammatory Markers in Iraqi Patients
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Publication Date
Fri Sep 12 2025
Journal Name
Journal Of Baghdad College Of Dentistry
Oral manifestation biochemical and IgA analysis of saliva in hyperthyroid (Grave’s disease) patients(Comparative study)
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Background: Hyperthyroidism occurs due to over production of thyroid hormones, one types of hyperthyroidism was Graves, disease. Hyperthyroidism is characterized by high level of serum thyroxin, triiodothyronine and low level of thyroid stimulated hormones. Material and Methods: fifty two hyperthyroid patients, thirty patients under treatment with carbimazole and other twenty two patients under treatment with radioactive iodine, and sixty healthy control group. The average salivary flow rate was calculated as ml/5mint.The concentration of calcium, potassium, and total protein were determined in the salivary supernatant sample. This is done through different biochemical tests. Determination of salivary IgA is done by ELIZA. Results: The most

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Publication Date
Thu Mar 10 2011
Journal Name
Tikrit Journal Of Agricultural Sciences
ESTIMATION OF GENE ACTION AND GENETIC PARAMETERS FOR SOME VEGETATIVE AND FLOWERY GROWTH CHARACTERS 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 vegetative and flowery growth 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

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Publication Date
Mon Dec 20 2021
Journal Name
Bulletin Of The Iraq Natural History Museum (p-issn: 1017-8678 , E-issn: 2311-9799)
MOLECULAR CHARACTERIZATION OF ANISAKID NEMATODES HYSTEROTHYLACIUM SPECIES FROM JAPANESE THREADFIN BREAM NEMIPTERUS JAPONICUS (BLOCH, 1791) (PERCIFORMES, NEMIPERIDAE) FROM IRAQI MARINE WATER FISH
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The present study provides a new insight into valuable information on the diverse structure of the Anisakid population and discusses the limited species richness in the Nemipterus japonicus (Bloch,1791) (Perciformes, Nemiperidae). The fishing area consists of various locations in the Arabian Gulf (29°58 0 33 00 N48°28 0 20 E). A total of 315 marine fish were examined, (n=287) were infected. Larval stages (n= 763) encysted within the mesenteries peritoneum and viscera of fish organs were isolated, with a prevalence of 91.11% of infection and, the intensity was 2.65. Molecular analysis was carried out on thirty individuals who have examined the morphology and showed some appearance differences, by amplifying internal transcribed spacers

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