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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 Sep 01 2019
Journal Name
Baghdad Science Journal
Detection of 16S rRNA Methylases and Co-Resistance with β-lactams among Klebsiella pneumoniae Isolates from Iraqi Patients
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Out of 150 clinical samples, 50 isolates of Klebsiella pneumoniae were identified according to morphological and biochemical properties. These isolates were collected from different clinical samples, including 15 (30%) urine, 12 (24%) blood, 9 (18%) sputum, 9 (18%) wound, and 5 (10%) burn. The minimum inhibitory concentrations (MICs) assay revealed that 25 (50%) of isolates were resistant to gentamicin (≥16µg/ml), 22 (44%) of isolates were resistant to amikacin (≥64 µg/ml), 21 (42%) of isolates were resistant to ertapenem (≥8 µg/ml), 18 (36%) of isolates were resistant to imipenem (4- ≥16µg/ml), 43 (86%) of isolates were resistant to ceftriaxone (4- ≥64 µg/ml), 42 (84%) of isolates were resistant to ceftazidime (1

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Publication Date
Tue Nov 17 2020
Journal Name
Annals Of Tropical Medicine And Public Health
Correlation Study of Aromatase, Some Sex Hormones, and Body Mass Index Among Iraqi Patients with Polycystic Ovary Syndrome
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Publication Date
Sat Feb 01 2020
Journal Name
Meta Gene
Interleukin-2 serum level, genetic polymorphism (rs2069763), anti-rubella antibody and risk of multiple sclerosis among Iraqi patients
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Background: Multiple sclerosis (MS) is a chronic neurodegenerative autoimmune disease mediated by autoreactive T cells against myelin-basic proteins. Cytokines are suggested to play a role in the etiopathogenesis of the disease. Among these cytokines is interleukin-2 (IL-2). Aim of the study: To investigate the association between IL2+166 G/T single nucleotide polymorphism (SNP: rs2069763) and MS in Iraqi patients. Serum level of IL-2 was also detected. Anti-rubella IgG antibody was further determined in the sera of patients. Patients and methods: Eighty MS patients (28 males and 52 females; age mean ± SD: 39.2 ± 16.1 years) and 80 healthy control matched patients for age (32.15 ± 16.13 years) and gender (28 males and 52 females) were en

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Publication Date
Fri Jul 01 2022
Journal Name
Biomedicine And Chemical Sciences
Identification of Pathogenic Fungi in Renal Transplant Patients by Conventional and Molecular Methods
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Opportunistic fungal infections due to the immune- compromised status of renal transplant patients are related to high rates of morbidity and mortality regardless of their minor incidence. Delayed in identification of invasive fungal infections (IFIs), will lead to delayed treatment and results in high mortality in those populations. The study aimed to assess the frequency of invasive fungal infection in kidney transplant recipients by conventional and molecular methods. This study included 100 kidney transplant recipients (KTR) (75 males, and 25 females), collected from the Centre of Kidney Diseases and Transplantation in the Medical City of Baghdad. Blood samples were collected during the period from June 2018 to April 2019. Twent

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Publication Date
Sat Aug 30 2025
Journal Name
Iraqi Journal Of Science
Seroprevalence and Molecular Detection of Human Parvovirus B19 in Beta Thalassemia Major Patients
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Beta thalassemia major (BTM) is a genetic disorder that has been linked to an increased risk of contracting blood-borne viral infections, primarily due to the frequent blood transfusions required to manage the condition. One such virus that can be transmitted through blood is the Human Parvovirus B19 (B19V). The aim of this study was to investigate the frequency and molecular detection of B19V. This study included 60 blood donors as controls and 120 BTM patients. B19V was identified by serology, which measured B19-IgG and B19-IgM antibodies. Nested Polymerase Chain Reaction (nPCR) was employed to target the VP1/VP2 structural proteins. The results showed that B19V seropositivity represents 27.5% (33 out of 120) in BTM patients, and

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Publication Date
Wed Jan 01 2020
Journal Name
Annals Of Tropical Medicine And Public Health
Serum Adropin and Apelin as Potential Markers PredictingAcute Heart Failure-associated Renal Dysfunction among Elderly Iraqi Patients
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Publication Date
Fri Sep 26 2025
Journal Name
Al-kindy College Medical Journal
Depression Among Elderly Patients /Mosul City
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Background: Depression in elderly aged (60 year and above )is a widespread mental health problem . The current primary healthcare systeminadequately recognize and treat elderly  patients with depression..

Objectives:To determine the prevalence of depression among elderly patientsin Mosul city, its correlation with some sociodemographic variablesand to assess severity of depression in relation to past history of depression.

Type of the study: This is a cross-sectional study.

Methods: This study assess the  prevalence of depression in a randomly selected sample 150 elderly patients aged 60 years and above (89 female &

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Publication Date
Wed Mar 15 2023
Journal Name
Journal Of Survey In Fisheries Sciences
The Correlation of DAZ1 Gene Methylation with Azoospermia in Iraqi Infertile Men
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After about twelve months or maybe more, some people can’t achieve pregnancy. This might be a sign of infertility as a reproductive system disease. The following study was carried out to investigate the DAZ 1 gene methylation level and its association with azoospermia in Iraqi patients. One hundred and fifty human blood samples were collected from from different regions in Baghdad governorate, including (private medicals Labs and the high institute for infertility diagnosis assisted reproductive techniques and Kamal Al- Samara'ay IVF Hospital) from both fertile and infertile men. The control group consists of 50 samples ranging from 22 to 51 years old, while the patient (infertile group) consists of 100 samples ranging between 25 and 51 y

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Publication Date
Tue Jan 01 2019
Journal Name
Therapeutic Advances In Drug Safety
Deferasirox in thalassemia: a comparative study between an innovator drug and its copy among a sample of Iraqi patients
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Background:

The health care industry is witnessing an increasing trend in the use of generic medicines because of their presumed low cost compared with innovator medicines. The aim of this study was to determine and compare the performance of the copy drug Osveral®and its innovator drug deferasirox (Exjade®).

Methods:

A prospective observational study including 223 patients receiving the branded medicine Exjade®and 101 patients receiving the copy Osveral®was carried out. Data were assessed for a 1-year period and included clinical symptoms, serum ferrit

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Publication Date
Wed Jan 01 2020
Journal Name
Annals Of Tropical Medicine And Public Health
The extent of UMOD gene polymorphism and its level in type 2 diabetes patients
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