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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
Tue Mar 05 2024
Journal Name
International Journal Of Science And Research (ijsr)
Evaluation of Adherence to Methotrexate in a Sample of Iraqi Patients with Rheumatoid Arthritis Receiving Anti - TNF Medications
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Publication Date
Fri Aug 26 2022
Journal Name
Journal Of Contemporary Medical Sciences
Measurement of the serum level of Leucine-rich alpha-2-glycoprotein-1 in hospitalized Iraqi COVID-19 Patients
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Objective: The study aimed to assess Leucine-rich alpha-2-glycoprotein-1 biomarker serum level in hospitalized COVID-19 patients. Methods: The case control study from multi-centers in Baghdad included 45 adult patients (19 females and 26 males) with COVID-19, diagnosed with a positive real-time reverse transcription polymerase chain reaction and excluded negative RT-PCR for COVID-19 and comorbidity conditions. Second group, was 43 control (20 females and 23 males). Results: This study found a decrease Leucine-rich alpha-2-glycoprotein-1 biomarker serum level in these patients and a significant difference in D. dimer, neutrophil count, lymphocyte count, and the neutrophil-lymphocyte ratio between the patients and controls at a P valu

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Publication Date
Mon Nov 02 2020
Journal Name
International Journal Of Pharmaceutical Research
Evaluation of Serum Adropin Levels in Nonalcoholic Fatty Liver Disease as A Complication of Hypothyroidism In Iraqi Patients
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Publication Date
Fri Mar 01 2019
Journal Name
Research Journal Of Biotechnology
The etiological role of Chlamydia pneumoniae and Mycoplasma pneumoniae infections in systemic lupus erythematosus of iraqi female patients
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Recently, Systemic lupus erythematosus (SLE) was considered as one of the autoimmune diseases that the genetic and environmental factors contributed in the disease etiological profile. According to the environmental factors, infectious agents have been concluded to have a role in the etiology and pathogenesis of SLE. Chlamydia pneumoniae and Mycoplasma pneumoniae are among these infectious agents that have been suggested to be involved in the etiology of SLE. Accordingly, the current study was designed to assess the anti-C. pneumoniae and anti-M. pneumoniae IgG antibody status by enzyme linked immunosorbent assay (ELISA) in the sera of 64 Iraqi SLE females' patients and 32 Iraqi healthy females as controls. The patients' group were distribu

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Publication Date
Wed Jan 03 2024
Journal Name
Al-rafidain Journal Of Medical Sciences ( Issn 2789-3219 )
Assessment of Adherence and Self-Efficacy in a Sample of Iraqi Patients Receiving Warfarin or Direct Oral Anticoagulants
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Background: While warfarin and direct oral anticoagulants (DOACs) are used to manage thromboembolic events, they possess several features that impact adherence. Objective: To assess medication adherence and self-efficacy in patients receiving warfarin or DOAC treatment. Methods: A cross-sectional study was performed at Ibn Al-Bitar Hospital in Baghdad from December 2022 to May 2023 on patients receiving either warfarin or DOACs. The Arabic version of the Adherence to Refills and Medications Scale (ARMS) questionnaire and the Self-Efficacy for Managing Chronic Disease 6-Item Scale (SES6C) questionnaire were used to assess adherence and self-efficacy. Results: 181 patients were enrolled in the study, of whom 56.9% received warfarin an

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Publication Date
Wed Jan 30 2013
Journal Name
Al-kindy College Medical Journal
The efficacy and tolerability of 10mg and 20mg/day isotretinoinin the treatment of acne vulgaris in Iraqi patients
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Back ground: Oral isotretinoin is recommended
for sever nodulocystic acne in the doses 0.5-
2mg/kg/day which is usually associated with higher
incidence of adverse effects. To reduce the
incidence of side-effects and to make it more costeffective,
the lower dose regimen of isotretinoin has
been used.
Aim: To compare the efficacy and tolerability of
oral isotretinoin 10mg and 20mg/day in acne
vulgaris.
Methods: one hundred and twenty patients with
acne vulgaris were randomized into two treatment
regimens each consisting of 60 patients. The first
was treated with 10mg/day and the second group
with 20mg/day for 24 weeks. Fifty five patients
from the first group and 47 patients from the second

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Publication Date
Mon Jun 05 2023
Journal Name
Al-rafidain Journal Of Medical Sciences ( Issn 2789-3219 )
Association of Disease Duration and Duration of Olanzapine Use with Blood Sugar, Blood Pressure, BMI, and Lipid Profile among Schizophrenic Patients in Iraq
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Background: The association of olanzapine with hyperglycemia, an elevated lipid profile, and high blood pressure was early recognized after its approval and has become of increased concern. Objective: To determine the association of olanzapine use with blood sugar levels, lipid profiles, and blood pressure in hospitalized Iraqi patients with schizophrenia. Methods: A cross-sectional study involving 50 hospitalized patients with schizophrenia who met the Diagnostic and Statistical Manual of Mental Disorders (DSM)-V diagnostic criteria and had taken olanzapine for at least two years was carried out between November 2022 and February 2023 at two facilities in Baghdad, Iraq (Ibn Rushd Psychiatric Teaching Hospital and Al Rashad Hospital

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Publication Date
Thu Aug 31 2017
Journal Name
Journal Of Engineering
Reactive Adsorption Desulfurization by Nanocrystalline ZnO/Zeolite A Molecular Sieves
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      Nanocrystalline ZnO/Zeolite type A composite was prepared by simple method of operation by . the precipitation of zinc oxide and loading on zeolite 5A in one step. Characterization was made by X-ray diffraction (XRD), X-ray fluorescence(XRF), N2  adsorption- desorption for BET surface area, and Atomic force microscopy (AFM). Results showed that zinc oxide was loaded on zeolite as noticed by the characteristic peaks and was of nano scale having an average diameter of 88.57nm. The percentage loading of ZnO on zeolite A was 28.37% and the surface area was 222m2/g. The activity of the prepared catalyst was examined in the desulfurization of double hydrogenated diesel fuel. The process was investigated in a

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Publication Date
Fri Jan 01 2021
Journal Name
Research Journal Of Pharmacy And Technology
Bacteriological and molecular study on S. Aureus bacteria Atala, M.L.
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Publication Date
Sun Sep 01 2024
Journal Name
Egyptian Journal Of Botany
Molecular data unravels three freshwater peridinioids in the Baghdad Island Tourist Lake, with reporting Palatinus apiculatus (Peridiniopsidaceae, Peridiniales) as a new record for the Iraqi algal flora
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