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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
Fri Jul 11 2025
Journal Name
Scientific Reports
Molecular docking study and pharmacokinetic insights of rifampicin in pure and capsule dosage forms
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To detect the amount of rifampicin in bulk and medicinal dosage formulations, an accurate and costeffective UV spectrophotometric technique has been developed using the area under the peak to estimate the presence of rifampicin. This range of wavelengths (300–356 nm) was chosen. The method showed linearity in the 2–22 μg/mL range, with R2 being2 0.9996. The developed method’s linearity, detection limit, quantification limit, precision, repeatability, and accuracy were all statistically and experimentally validated. The suggested methodology can be used for routine quality control analysis of rifampicin in pure form and in capsule dosage form, as demonstrated by the satisfactory recovery percentage results. This study explores the str

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Publication Date
Mon Oct 02 2023
Journal Name
History Of Medicine
Chemical and Molecular Physics in Perspective Quantum Mechanics is alternative of Quantum Classical Mechanics
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Abstract The concept of quantum transition is based on the completion of a succession of time dependent (TD) perturbation theories in Quantum mechanics (QM). The kinetics of "quantum" transition, which are dictated by the coupled motions of a lightweight electrons and very massive nuclei, are inherent by nature in chemical and molecular physics, and the sequence of TD perturbation theory become unique. The first way involved adding an additional assumption into molecule quantum theory in the shape of the Franck-Condon rule, which use the isothermal approach. The author developed the second strategy, which involved injecting chaos to dampen the unique dynamically of the bonding movement of electrons and nuclei in the intermediary state of

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Publication Date
Wed Feb 22 2023
Journal Name
Iraqi Journal Of Science
A Molecular Investigation of Phytoplasma (Candidatus Phytoplasma) Infecting Arabic Jasmine (Jasminum sambac) in Iraq
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This study was conducted to investigate phytoplasma causing a virescence disease on Arabic jasmine Jasminum sambac based on microscopy and molecular approaches. Samples were collected from symptomatic Arabic jasmine plants grown in nurseries in Baghdad-Iraq. Specimens from infected plants were prepared and Dienes stained for light microscopy examination. Phytoplasma were detected in infected plants by polymerase chain reaction (PCR) using P1/P7 and SecAfor1/SecArev3 Candidatus Phytoplasma specific primer sets. Light microscopy test showed symptomatic Arabic jasmine plants were phytoplasms infected when phloem tissues were stained with a dark blue color. PCR test confirmed the symptomatic plants were phytoplasms infected when SecAfor1/Sec

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Publication Date
Sun Jun 20 2021
Journal Name
Baghdad Science Journal
Immunological and Molecular Diagnosis of Cytomegalovirus Infection between Aborted & Pregnant Women in Babylon City
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Human cytomegalovirus (CMV) is the globally highly prevalent herpesvirus worldwide. CMV infects populations of all ages according to the Center for Disease Control and Prevention (CDC) and World Health Organization (WHO). CMV infections remain the most common viral complication potentially multiple in humans and are a major cause of congenital normality in women, which is why they are critical for diagnosis in several times when it happens during pregnancy. Pregnant women with CMV infection can be in charge of abortion or congenital expandaedby. This study involves the collection a total of (90) samples taken from each aborted and pregnant woman (70 with abortion cases and 20 of pregnant without history of abortion as control subjects) r

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Publication Date
Sun Jul 10 2022
Journal Name
International Journal Of Health Sciences
Isolation and molecular identification of pathogenic cryptococcus neoformans from pigeon dropping and human sputum
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This study is designed to isolate and molecular identification of C. neoformans, C. neoformans is pathogenic yeast and effect immunocompromised and immunocompetent. Methods: collect 50 samples from pigeon dropping and 50 samples from pigeon fanciers (sputum). The collection time was extended from November 2021 to February 2022, then culture at SDA, BSA, Cryptococcus Differential agar, esculin agar, Eucalyptus leaves agar media and Brain heart infusion agar with methyldopa, biochemical test including urease test and methyldopa, and then confirm identification by molecular identification by PCR technique sequencing and genetic analysis. The results showed that 3 swaps taken from sputum of human included cryptococcus neoformans and 6 s

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Publication Date
Sun Jun 05 2016
Journal Name
Baghdad Science Journal
Density functional theory study of molecular structure, Electronic properties, UV–Vis spectra on coumarin102.
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The various properties of the ground and excited electronic states of coumarins 102 using density functional theory (DFT) and time-dependent density functional theory (TDDFT) was calculated by the B3LYP density functional model with 6-31G(d,p) basis set by Gaussian 09 W program. Spectral characteristics of coumarin102 have been probed into by methods of experimental UV-visible, and quantum chemistry. The UV spectrum was measured in methanol. The optimized structures, total energies, electronic states (HOMO- LUMO), energy gap, ionization potentials, electron affinities, chemical potential, global hardness, softness, global electrophilictity, and dipole moment were measured. We find good agreement between experimental data of UV spectrum and

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Publication Date
Wed Jul 10 2024
Journal Name
Pharmacia
Molecular docking, ADMET, synthesis and evaluation of new indomethacin hydrazide derivatives as antibacterial agents
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Bacterial infections pose an ongoing challenge due to resistance developed by infectious bacteria. So much research targeting designing new antibacterials is published annually. Our goal is to synthesize compounds that have given antibacterial activity according to molecular docking against the chosen target protein and that have acceptable ADMET properties that can be synthesized and used in the future. New 2-(5-methoxy-1-(4-chlorobenzene)-2-methyl-1H-indol-3-yl)acetohydrazide derivatives’ antibacterial efficacy against two common strains of Gram-negative and Gram-positive microorganisms has been developed, produced, and investigated. Sophisticated, modern analytical methods, including ATR-FTIR and 1H NMR spectroscopy, were used

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Publication Date
Thu Sep 15 2022
Journal Name
Journal Of Baghdad College Of Dentistry
The effect of sweet and salty taste sensitivity on gin-gival health in relation to salivary serotonin among type1 diabetic patients aged 12-14 years
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Background: This study was conducted among diabetic persons to assess the sweet and salty taste sensitivity with its effect on gingival health in relation to salivary serotonin levels. Materials and methods: A cross-sectional comparative study design was used. All patients with diabetes aged 12-14 years that attend the Paediatric hospital at Baghdad medical city with specific inclusion criteria were involved in the sample of the present study (patients group 50 patients) compared with non-diabetic persons matched in age and gender of the study sample (control group 70 patients) who were attending dental unit in the college of dentistry/university of Baghdad. A two-alternative forced choice question including each component presented at f

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Publication Date
Sun Sep 27 2020
Journal Name
Iraqi National Journal Of Nursing Specialties
Effectiveness of an Instructional Program Concerning Non-Pharmacological Guideline on Controlling Essential Hypertension among Patients at AL-Sader Hospital in AL-Najaf AL-Ashraf City
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Objective: The aims of present study to detect the effectiveness of instruction program of non-pharmacological guideline on blood pressure and laboratory test.

 

Methodology: A pre-experimental study was conducted in Al-Sader Teaching Hospital   from 8th of September 2019 to 25th of May 2020, in order to find out the effectiveness of instruction program concerning non-pharmacological guideline on controlling essential hypertension among patients. A non- probability (purposive sample) of 50 patients with essential hypertension is selected. Those patients are already diagnosed with Essential Hypertension

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Publication Date
Sat Sep 09 2017
Journal Name
International Journal Of Science And Research (ijsr)
Comparative Study of Sevelamer Carbonate and Calcium Carbonate on Fibroblast Growth Factor-23 and Parathyroid Hormone in Hemodialysis Iraqi Patients
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Fibroblast growth factor-23, play an important role in atherosclerosis, endothelial dysfunction and vascular calcification. Sevelamer can improve vascular calcification, serum uric acid, low-density lipoprotein-cholesterol and Fibroblast growth factor-23. Aim of study Assessment the effect of sevelamer as phosphate binder against calcium carbonate on Fibroblast growth factor-23. Methods A prospective open-labelled study that included patients on hemodialysis. A total of 72 patients were screened, only 53 patients completed the 10 week period. Adults patients with serum phosphate as> 5.5 mg/dl were included. There were Group1: Includes 28 patients (19 males and 9 females receiving sevelamer carbonate (Renvela) tablet. Group 2: Include 25pati

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