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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 Sep 15 2022
Journal Name
Bionatura
Assessment of lipid profile with HbA1c in type 2 diabetic Iraqi patients
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Insulin-induced hyperglycemia is the hallmark of diabetes mellitus (DM), including various metabolic disorders. Diabetic people are more likely to develop dyslipidemia, hypertension, and obesity. Type 2 diabetes ‎(T2DM), the most common illness, is generally asymptomatic in its early stages and can go misdiagnosed for years. Diabetes screening may be beneficial in some cases since early identification and treatment can lessen the burden of diabetes and its consequences.‎ This study aimed to find the relationship between Glycated hemoglobin (HbA1c) ‎and lipid profile components in T2DM‎ patients. This descriptive-analytical and cross-sectional study was performed on the control group and T2DM patients in ‎Medical City in Baghdad be

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Publication Date
Wed Aug 02 2023
Journal Name
Bionatura
Comparative Study of IgG Between Iraqi Covid-19 Patients and Vaccinated Individuals
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COVID-19 is a coronavirus disease caused by the severe acute respiratory syndrome. According to the World Health Organization (WHO), coronavirus-2 (SARS-CoV-2) was responsible for 87,747,940 recorded infections and 1,891,352 confirmed deaths as of January 9, 2021. Antibodies that target the Sprotein are efficient in neutralizing the virus. Methodology: 180 samples were collected from clinical sources (Blood and Nasopharyngeal swabs) and from different ages and genders at diverse hospitals in Baghdad / IRAQ between November 5, 2021, to January 20, 2022. All samples were confirmed infected with COVID-19 disease by RT-PCR technique. Haematology analysis and blood group were done for all samples, and Enzyme-Linked Immunosorbent Assay used an Ig

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Publication Date
Tue Jan 01 2019
Journal Name
Indian Journal Of Forensic Medicine &amp; Toxicology
Immunohistochemical Assessment of SOX2 Expression in Iraqi Patients with Gastric Carcinoma (GC)
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Publication Date
Mon Jun 03 2024
Journal Name
Journal Of Kufa For Chemical Sciences
Biochemical Role of Blood Electrolytes in Old Iraqi Patients with COVID-19
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Background: Age progression is regarded as a critical risk factor in morbidity and mortality because of a weakened immune system. Although various studies have dealt with electrolyte imbalance in COVID-19 patients, the outcomes of these studies were partially understood. Objective: The current study aims to determine some biochemical parameters in old Iraqi COVID-19 patients and highlight the outcomes according to the aging role in the development of COVID-19 by suggesting new mechanisms. Materials and methods: forty COVID-19 patients were enrolled in the current study and divided into two groups: Gm includes (20) men, and Gf includes  (20) women. The parameters (Na+, K+, Cl-, LDH, and Hb ) were determined in sera of patients and c

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Publication Date
Sat Nov 30 2024
Journal Name
Iraqi Journal Of Science
Evaluation of Syndecan-1 Expression in Iraqi Patients with Papillary Thyroid Carcinoma
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Papillary thyroid carcinoma (PTC) represents the most prevalent kind of thyroid gland cancer, making up around 80% of all occurrences of thyroid cancer. Evidence shows that Syndecan-1 (SDC-1) expression is lost in a number of benign and malignant epithelial neoplasms, although its expression profile in thyroid gland neoplasms is yet unknown. Therefore, the aim of this study was to assess SDC-1 expression in papillary thyroid carcinoma patients, as well as the relationship between age and gender and SDC-1 expression. To undertake a detailed investigation of SDC-1 in normal and malignant tissues, tissue sections were used to examine SDC-1 expression in 70 tissue samples, 50 distinct PTC (6 males and 44 females) and 20 normal tissue ty

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Publication Date
Tue Jun 20 2023
Journal Name
Baghdad Science Journal
Estimation levels of CTHRC1and some cytokines in Iraqi patients with Rheumatoid Arthritis
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Collagen triple helix repeat containing-1 (CTHRC1) is an essential marker for Rheumatoid Arthritis (RA), but its relationship with pro-inflammatory, anti-inflammatory, and inflammatory markers has been scantily covered in extant literature. To evaluate the level of CTHRC1 protein in the sera of 100 RA patients and 25 control and compare levels of tumour necrosis factor alpha (TNF-α), interleukin 10 (IL-10), RA disease activity (DAS28), and inflammatory factors. Higher significant serum levels of CTHRC1 (29.367 ng/ml), TNF-α (63.488 pg/ml), and IL-10 (67.1 pg/ml) were found in patient sera as compared to that in control sera (CTHRC1 = 15.732 ng/ml, TNF-α = 33.788 pg/ml, and IL-10 = 25.122 pg/ml). There was no significant correlation be

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Publication Date
Tue Jun 20 2023
Journal Name
Baghdad Science Journal
Estimation levels of CTHRC1and some cytokines in Iraqi patients with Rheumatoid Arthritis
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Collagen triple helix repeat containing-1 (CTHRC1) is an essential marker for Rheumatoid Arthritis (RA), but its relationship with pro-inflammatory, anti-inflammatory, and inflammatory markers has been scantily covered in extant literature. To evaluate the level of CTHRC1 protein in the sera of 100 RA patients and 25 control and compare levels of tumour necrosis factor alpha (TNF-α), interleukin 10 (IL-10), RA disease activity (DAS28), and inflammatory factors. Higher significant serum levels of CTHRC1 (29.367 ng/ml), TNF-α (63.488 pg/ml), and IL-10 (67.1 pg/ml) were found in patient sera as compared to that in control sera (CTHRC1 = 15.732 ng/ml, TNF-α = 33.788 pg/ml, and IL-10 = 25.122 pg/ml). There was no significant correlati

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Publication Date
Wed Dec 30 2020
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Assessment of Quality of Life in a Sample of Iraqi Patients with Psoriasis.
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Psoriasis is a dermatological, chronic, immune-mediated condition. Psoriasis symptoms are not associated with physical burden only, but it may also have psychosocial effects on patients, diminished cognitive control, poor body image and impairments in everyday life. The value of quality of life is important since improving it is the principal goal for non-curative disease. The aim of the current study was to evaluate quality of life in a sample of Iraqi patients with psoriasis. This study is a cross-sectional study that involved 300 already diagnosed psoriasis patients who attended to the center of Dermatology and Venereology, Medical City/Baghdad. The mean age of patients was (35.156 ±10.549 years). The Arabic version of Dermatology Li

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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
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.