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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 Oct 03 2024
Journal Name
Applied Organometallic Chemistry
Synthesis, Characterization, Molecular Docking, Cytotoxicity, and Antimicrobial Activity of Schiff Base Ligand and Its Metal Complexes
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A Schiff base ligand (L) was synthesized via condensation of N-( 1-naphthyl) ethylenediamine dihydrochloride with phthalaldehyde. The ligand was characterized by FT-IR, UV–Vis, 1H NMR, mass spectrometry, and elemental analysis (C, H, N). Five metal complexes (Co(II), Ni(II), Cu(II), Zn(II), and Cd(II)) were prepared with the ligand in a 1:1 (M:L) ratio using an aqueous ethanol solution. The complexes were characterized by FT-IR, UV–Vis, mass spectrometry, and elemental analysis (C, H, N). Additionally, 1H NMR spectroscopy was employed for Cd(II) complex. Antimicrobial activity of the ligand and its metal complexes against pathogenic bacteria (K. pneumoniae, E. coli, S. aureus, and S. epidermidis) and fungus (C. albicans) were evaluated

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Publication Date
Thu Oct 03 2024
Journal Name
Applied Organometallic Chemistry
Synthesis, Characterization, Molecular Docking, Cytotoxicity, and Antimicrobial Activity of Schiff Base Ligand and Its Metal Complexes
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ABSTRACT<p>A Schiff base ligand (L) was synthesized via condensation of <italic>N</italic>‐(1‐naphthyl)ethylenediamine dihydrochloride with phthalaldehyde. The ligand was characterized by FT‐IR, UV–Vis, <sup>1</sup>H NMR, mass spectrometry, and elemental analysis (C, H, N). Five metal complexes (Co(II), Ni(II), Cu(II), Zn(II), and Cd(II)) were prepared with the ligand in a 1:1 (M:L) ratio using an aqueous ethanol solution. The complexes were characterized by FT‐IR, UV–Vis, mass spectrometry, and elemental analysis (C, H, N). Additionally, <sup>1</sup>H NMR spectroscopy was employed for Cd(II) complex. Antimicrobial activity of the ligand and its metal complexes against </p> ... Show More
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Publication Date
Tue Jun 16 2020
Journal Name
Synthetic Communications
Synthesis, identification and molecular docking studies of N-functionalized piperidine derivatives linked to 1,2,3-triazole ring
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Publication Date
Mon Dec 21 2020
Journal Name
Bulletin Of The Iraq Natural History Museum
MOLECULAR CHARACTERIZATION OF CONTRACAECUM RUDOLPHII HARTWICH, 1964 (NEMATODA: ANISAKIDAE) FROM THE CORMORANT PHALACROCORAX CARBO IN IRAQ
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Contracaecum rudolphii Hartwich, 1964 is a nematode which causes major concerns to human and wildlife animal’s health. However, the population genetics of C. rudolphii has been poorly studied in Iraq. In order to gain a deeper understanding in the outline of the genetic diversity of the nematode C. rudolphii that were isolated from its host cormorant Phalacrocorax carbo (Linnaeus, 1758), in the middle areas of Iraq, twenty specimens of C. rudolphii adults were isolated from nine individuals of P. carbo. The first (ITS-1) internal transcribed spacers (ITS) of ribosomal DNA (rDNA) of C. rudolphii were amplified using conventional polymerase chain reaction (PCR); then, the amplicons were subjected to sequencing. Concatenation of ITS

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Publication Date
Mon Jun 25 2018
Journal Name
International Journal Of Pharmaceutical Quality Assurance
Synthesize of New Ibuprofen and Naproxen Sulphonamide Conjugate with Anti-Inflammatory Study and Molecular Docking Study
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Non-steroidal anti-inflammatory drugs (NSAIDs) contain free –COOH which thought to be responsible for the GI irritation associated with all traditional NSAIDs. The esterification of this group is one of an approach to ultimate aim for reduce the gastric irritation; so in this study we synthesized and preliminarily evaluated new ester compounds as new analogues with expected selectivity toward COX-2 enzyme. Synthetic procedures have been successfully developed for the generation of the target compounds (III a and b). The synthetic approach involved multi-steps procedures which include: Synthesis of 4-hydroxy benzene sulphonamide ( I b ), synthesis of Naproxen and Ibuprofen acyl chloride and then reacting them with 4-hydroxy benzene sulphon

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Publication Date
Fri Jun 16 2023
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Formulation and Assessment of Delayed/Slow-Release Diclofenac Sodium Edible Organogel Utilizing Low Molecular Weight Organogelators
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Organogel as a system was to estimate its capacity to delay and slow the drug release in the duodenum. The gelators, 12HSA (12-hydroxystearic acid), span 60. span 40 were used; the castor oil (CO) and anise oil (AO) also represented the liquid phase. To achieve the goal of this work was by using diclofenac sodium (DS). Organogels specifications were by estimating thermal attitude using tabletop rheology and differential scanning calorimetry (DSC). The organogel strength study was by applying oscillatory rheology tests the amplitude sweep and the frequency sweep. Realizing the morphology of the organogel was done utilizing an optical microscope. CO and AO binding capacity was also manifested. The transition temperatures for all organogels

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Publication Date
Tue Jun 01 2021
Journal Name
Baghdad Science Journal
Morphological and Molecular Identification of Limnodrilus Claparede,1862 Species(clitellata: naiDIDAE) IN Tigris River, Baghdad/Iraq
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Sludge worm samples were collected from the Tigers River sediment during the period from November 2018 to June 2019 in Al Sarafiya District/ Baghdad- Iraq. Biometric morphological measurements focusing on the form of penis sheath and chaetal morphology were used for species identification, in addition to molecular analysis by amplification of conserved 18s rRNA encoding gene using ITS1 and ITS4 universal primers.According to the morphological measurement records, the results revealed the existence of Limnodrilus hoffmeisteri Claparede 1862, L. claparedeianus Ratzel, 1868 and L. cervix Brinkhurst 1963. Other two groups of specimens, with short penis sheath, were identified by molecular technology as L

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Publication Date
Tue Jan 01 2019
Journal Name
Iraqi Journal Of Agricultural Sciences
Role of calcium-regulating hormones, adipocytokines and renal function test in the progress of type 2 diabetes mellitus in a sample of Iraqi patients
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A cross-sectional study was conducted on 80 type 2 diabetic patients aged 20-60 years in Baghdad and 20 non diabetic persons as controls. Laboratory assessment of glucose related parameters; Fasting blood sugar (FBS), Glycated hemoglobin (HbA1c), Insulin and Insulin resistance (IR), renal function test; Blood urea, serum creatinine, Calcium (Ca) and Phosphorus (P), Calcium regulating hormones; Parathyroid hormone (PTH), calcitonin and vitamin D, cytokines, Adiponectin and Tumor necrosis factor (TNF-α) and comparison these parameters between patients and controls. The results: a high significant (p˂0.01) increase in FBG level in the patients (211.34 ± 11.20 mg/dl) as compared with control (85.89 ± 3.07 mg/dl). A high significant (p˂0.01

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Publication Date
Thu Apr 01 2021
Journal Name
Biochem. Cell. Arch.
AGE AND GENDER IMPACT ON GLYCAEMIC CONTROL, RENAL FUNCTION AND OXIDATIVE STRESS PARAMETERS IN IRAQI PATIENTS TYPE 2 DIABETES MELLITUS
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Type 2 daibetes mellitus (T2DM) is a global concern boosted by both population growth and ageing, the majority of affected people are aged between (40- 59 year). The objective of this research was to estimate the impact of age and gender on glycaemic control parameters: Fasting blood glucose (FBC), glycated hemoglobin (HbA1C), insulin, insulin resistance (IR) and insulin sensitivity (IS), renal function parameters: urea, creatinine and oxidative stress parameters: total antioxidant capacity (TAC) and reactive oxygen species (ROS). Eighty-one random samples of T2DM patients (35 men and 46 women) were included in this study, their average age was 52.75±9.63 year. Current study found that FBG, HbA1C and IR were highly significant (P<0.01) inc

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Publication Date
Sun Jan 01 2023
Journal Name
Journal Of Advanced Biotechnology And Experimental Therapeutics
Kidney injury molecule-1 and cystatin C as early biomarkers for renal dysfunction in Iraqi type 2 diabetes mellitus patients
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Diabetic kidney disease (DKD) is caused by a variety of processes. As a result, one biomarker is insufficient to represent the complete process. This study Evaluate the diagnostic value of serum kidney injury molecule-1(KIM-1) and cystatin C (CysC) as early biochemical markers of DKD and predictive their sensitivities and specificities as biomarkers of nephropathy in Iraqi type 2 diabetic (T2DM) patients. This cross-sectional study include 161 T2DM patients from Diabetes and Endocrinology Center at Merjan medical city in Babylon. Patients divided according to urinary albumin creatinine ratio(ACR) (Group1:ACR≤30mg/g,Group2:ACR>30mg/g). Random spot urine and fasting blood samples were taken from each patient and urinary ACR, bloo

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