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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
Wed Jul 23 2025
Journal Name
Journal Of Physical Education
Special Speed Endurance Effect of 800m Running on Some Physiological Indictors and Achievement of Physically Disabled Men Class (T47 – T46)
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Publication Date
Tue Jun 27 2023
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Evaluating the Benefits of Using Mobile Application (diarrhea management step by step) in the Management of Diarrhea by Community Pharmacists
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Diarrhea is one of the most commonly encountered minor ailments in the community pharmacies. It is associated with significant morbidity and mortality. However, the majority of pharmacists in Iraq did not manage diarrheal cases in a proper way. Therefore, the current study aimed to evaluate the benefit of a new mobile application (diarrhea management step by step) to improve the pharmacist's role in the management of diarrhea. The study was conducted from 21th September to 21th October 2021 using a pre-post design via a simulated patient (SP) technique. A validated diarrhea scenario was presented to each pharmacist by the SP twice, once before and the other after giving the mobile application to the pharmacist. Furthermore, pharmaci

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Publication Date
Wed Jul 23 2025
Journal Name
Journal Of Baghdad College Of Dentistry
Mesio-distal crown dimension of permanent dentition in normal, crowding, and spacing of young adult sample aged 18-25 years
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Background: This study aimed to assess the effect of tooth width in malocclusion in relation to normal, crowding, and spacing dentition. Materials and methods: The sample included dental casts of some dental students and orthodontic patients; their age was (18-25) years and having three groups normal, crowding, and spacing dentition groups. The sample was equally divided to three groups normal, crowding, and spacing dentition groups, each group contained 50 maxillary and 50 mandibular casts that were further subdivided by gender; all the stone casts were measured by highly sensitive digital vernier. Results and Conclusions: Non-significant side difference was found in both dental arches in the three studied groups. Males had higher mesiodis

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Publication Date
Wed Aug 30 2023
Journal Name
Al-kindy College Medical Journal
The Impact of using the Internet and Social Media on Sleep in a group of Secondary School Students from Baghdad
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Background: Insufficient sleep due to excessive media use is linked to decrease physical activity, poor nutrition, obesity, and decreased overall health-related quality of life.

Objectives: To assess the effect of using the internet and social media on the sleep of 4th-stage secondary school students.

Subjects and Methods: Cross-sectional study with the analytic element; for 500 secondary school students, obtained by choosing two schools randomly from each of the six educational directorates, by using a structured questionnaire.

Result: Secondary scho

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Publication Date
Wed Feb 22 2023
Journal Name
Iraqi Journal Of Science
Synthesis and Characterization of Trihydro mono and Dihydrobis(indole-3- acetic acid)Borate Ligands and Some of Their Metal Complexes
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Two new ligands Na2[ H3B (BDIA)].0.05H2O (L1)(BDIA = 1-Boranyl-2,3-
Dihydro-1H-Indol-3-yl)]Acetic Acid and Na3[H2B(BDIA)2].0.3H2O.0.3CH3Ph (L2)
were synthesized by reaction of NaBH4 with indole -3- acetic acid (IAA) . The
coordination properties of ligands were studied with Co(II) , Ni(II) , Cu(II) and
Pt(IV) ions. Characterization and structural aspects of the prepared compounds were
elucidated by 1HNMR, FTIR electronic spectra, magnetic susceptibility, elemental
and metal analysis, thermal analysis (TG & DTG) and conductivity measurements.
The obtained data for metal complexes suggested square planar geometry for
copper complexes, octahedral geometry for nickel and platinium complexes and
tetrahedral geom

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Publication Date
Tue Jan 18 2022
Journal Name
Materials Science Forum
Effect Partial Substitution of Calcium by &lt;i&gt;Cadmium&lt;/i&gt; on Dielectrically Properties of Li0.4Cd0.6Ba2Ca2Cu3O10+δ System
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In this article the conventional "solid-state reaction" method was used to synthesize perovskite Li0.4Cd0.6Ba2Ca2Cu3O10+δ. Four main types of compounds were obtained by physically replacing calcium oxide with cadmium in proportions 0, 0.03, 0.06 and 0.09, the pure Li0.4Cd0.6Ba2Ca2Cu3O10+δ phase, and the phases Li0.4Cd0.6Ba2Ca1.97Cd0.03Cu3O10+δ

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Publication Date
Wed Jun 29 2016
Journal Name
Iraqi Journal Of Market Research And Consumer Protection
Study the Activity of some plant resources as natural antioxidant: Study the Activity of some plant resources as natural antioxidant
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This study was done to test the activity of some plant extracts as antioxidant agents. The plants were (Morus rubra, Hibiscus sabdariffa L ., Rhus coriaria L., Anethum graveolens and Petroselinum sativum).
Ethanolic 98% (24 hours/ 25˚c) and distilled water (30 minutes/ 25˚c have been used for extraction.The Total phenols, total flavonoids, total anthocyanin, antioxidant activities were studied.
The extract of Morus rubra was chosen because it has a higher antioxidant activity.
The phenolic extract of Morus rubra was prepare and examined by application it in burger . The antioxidant activity test of Morus rubra was made before and after 3,6 days of cold storage. The sensory evaluation of all treatments were done within 5,1

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Publication Date
Mon Dec 20 2021
Journal Name
Bulletin Of The Iraq Natural History Museum (p-issn: 1017-8678 , E-issn: 2311-9799)
NEW RECORD OF THE LAND SNAIL POLYGYRA CEREOLUS (MEGERLE VON MÜHLFELD, 181 8 ) (GASTROPODA, STYLOMMATOPHORA, POLYGYRIDAE) FOR MALACOFAUNA OF IRAQ
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In this study, the specimens of land snails Polygyra cereolus (Megerle v on Mühlfeld t , 181 8
(Gastropoda, Stylommatophora, are collected between March and April 2021
from gardens and nurseries in Baghdad province, this species was recorded as a new record to
Iraq molluscan fauna. Description of the most important characteristics, measurements of the
shell are presented with digital p photographs, subsequently, this study represents the first record
of the Polygyridae in Iraq.

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Publication Date
Thu Jun 30 2022
Journal Name
Iraqi Journal Of Market Research And Consumer Protection
DESIGN AND VALIDATION OF A LOW−COST WIRELESS ELECTROMYOGRAPHY SYSTEM : DESIGN AND VALIDATION OF A LOW−COST WIRELESS ELECTROMYOGRAPHY SYSTEM
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Electromyography (EMG) is being explored for evaluating muscle activity. For gait analysis, EMG needs to be small, lightweight, portable device, and with low power consumption. The proposed superficial EMG (sEMG) system is aimed to be used in rehabilitation centers and biomechanics laboratories for gait analysis in Iraq.

The system is built using MyoWare, which is controlled by using STM32F100 microcontroller. The sEMG signal is transferred via Bluetooth to the computer (about 30m range) for further processing. MATLAB is used for sEMG signal conditioning. The overall system cost (without computer) is about $80. The proposed system is validated using wired NORAXON EMG using the mean root mean squared metho

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Publication Date
Sun Mar 06 2011
Journal Name
Baghdad Science Journal
Studying the Effect of Aqueous Extract from Curcuma Longa on Some Parameters of Cytogenetic, Immunity and Fertility in Female Mice
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The research work was conducted to investigate the effect of oral administration of aqueous extract of turmeric at doses of (5, 10) mg/kg body weight for two weeks daily by determining the genotoxic effect (mitotic index), evaluation of immunological effect (IgG, IgM, IgA, C3, C4) and measuring fertility hormones (follicles stimulation hormone/FSH, lutenising hormone/LH) levels with histological examinations of female albino swiss mice ovaries in comparison with control (normal saline). A clear effect in increasing mitotic activity was reveled for both doses in comparison with control. Results also showed a significant increase in the value of all immunological parameters at both doses, in comparison with control. Also, obvious rais

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