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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 Mar 15 2018
Journal Name
Journal Of Baghdad College Of Dentistry
The Role of Cone Beam Computed Tomography in Determination of the Greater Palatine Foramen Position Among Iraqi Population
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Background: The use of the cone beam computed tomography for analysing the position of the greater palatine foramen in relation to various anatomical landmarks is crucial in dentistry. The aims of the current study, firstly is to determine the greater palatine foramen position in relation to various anatomical landmarks by using cone beam computed tomography and secondly is to make a comparison of the measurements according to side, gender, and age. Materials and methods: This prospective study included 60 Iraqi patients (28males and 32 females) who selected according to availability of Inclusion criteria, which include age range (21 - 60 years), with no dentofacial deformities or pathological lesion at the maxilla. All patients had inform

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Publication Date
Fri Jun 05 2026
Journal Name
Journal Of Baghdad College Of Dentistry
Digital panoramic estimation of chronological age among Iraqi adult population in relation to morphological variables of canine teeth
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Background: Age determination of skeletal remains is apart of many medico-legal as well as anthropological examination. Many anatomical structures have been studied, but the teeth and their measurements seem to be the most reliable method since teeth represent the most durable and resilient part of the skeleton. This study was undertaken for estimating the chronological age among Iraqi adult subjects based on various morphological variables of canine teeth using digital panoramic radiograph. Material and methods: The sample in the current study consisted of 240 Iraqi patients attending to the dental radiological clinic at College of dentistry/ Babylon University taking panoramic radiographs for different diagnostic purposes, the study samp

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Publication Date
Sun Jul 21 2024
Journal Name
Al-rafidain Journal Of Medical Sciences ( Issn 2789-3219 )
Assessment of the Knowledge and Practice on Safe Handling of Anticancer Drugs among Pharmacists in Iraqi Healthcare Settings
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Background: Occupational exposure to hazardous drugs occurs in all aspects of anticancer drug handling. Proper recommendations and guidelines should be applied to control and reduce exposure. Objective: To assess pharmacists' knowledge and practice regarding the safe handling of anticancer drugs. Methods: A cross-sectional study was conducted at seven major hospitals in Baghdad City, Iraq, from December 2023 to February 2024. A pre-designed questionnaire was given to pharmacists who handled anticancer drugs in chemotherapy units. The questionnaire comprises sociodemographic data, knowledge of the safe handling of cytotoxic drugs and thoughts about exposure and risk, practices for safely handling cytotoxic drugs, and challenges for s

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Publication Date
Tue Dec 11 2018
Journal Name
Iraqi National Journal Of Nursing Specialties
Prevalence of Posttraumatic Stress Disorder (PTSD) among the Iraqi Repatriated Prisoners of the Iran-Iraq War, 1980-1988
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Objective: To determine the prevalence of Posttraumatic Stress Disorder (PTSD) among Iraqi repatriated
prisoners of Iran-Iraq war, and the relationship with demographic factors.
Methodology: A descriptive study was carried out from Oct. 18th, 2009 through Jan. 10th, 2010. A nonprobability
based snowball sampling technique was used to recruit 92 Iraqi repatriated prisoners of war
(IRPOWs) who had visited Ministry of Human Rights. A data collection instrument was constructed that
consisted of six demographic characteristics, and eight items to measure the level of PTSD in POWs. Data were
collected with the constructed instrument during a brief interview. Data were analyzed through the application of
descriptive statist

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Publication Date
Thu Nov 21 2024
Journal Name
F1000research
Comparison of the severity of urinary tract infections between Metformin and SGL2 Inhibitors among Iraqi Type 2 Diabetics.
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Background Many antidiabetic medications with distinct modes of action are available, The sodium glucose cotransporter-2 (SGLT-2) inhibitors are among the most recent oral antihyperglycemic medications. The American Diabetes Association recommends metformin, a biguanide medication, as the first option for oral control of type 2 diabetes because it has demonstrated promise in this regard. Aim of the study To evaluate and compare the effects of metformin and SGLT-2 inhibitors on general urine parameters in T2DM patients from Iraq. Method a prospective cohort study where 101 adult patients of both sexes aged under 70 years and newly diagnosed with T2DM, patients were divided into two groups, Metformin group (n=52), where metformin was p

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Publication Date
Wed Oct 07 2020
Journal Name
Indian Journal Of Forensic Medicine &amp; Toxicology
Phylogenetic Tree Analysis of First Psychrobacter Sp. Strain From Blood of Iraqi Patient; A Case Report
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Publication Date
Thu Mar 10 2022
Journal Name
American Journal Of Economics And Business Management
Analysis and measurement of the financial sustainability of the Iraqi economy for the period 1990-2018
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The research aims to measure the sustainability of the Iraqi economy for the period 1990-2018 as well as to show the impact of fluctuations in the level of GDP on financial sustainability, where financial sustainability is the necessary and sufficient condition for achieving economic and financial balance in the country, as financial sustainability reflects the movement of the state budget and its relationship to GDP through the indicators of deficit, fiscal surplus and public debt internal and external, as well as reflecting the art of managing public debt, and the more managed public debt is achieved, the more the management of public debt is achieved financial sustainability. for the state in the sense that there is a reciprocal

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Publication Date
Sat Jul 01 2023
Journal Name
Journal Of The Faculty Of Medicine Baghdad
Diagnostic and Predictive Values of IL-6 in a Group of Iraqi Patients with Rheumatoid Arthritis
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الخلفية: التهاب المفاصل الرَثَيَانِي أو الداء الرثياني أو الالتهاب المفصلي الروماتويدي هو مرض مزمن، من الأمراض الانضدادية التي تؤدي بالجهاز المناعي لمهاجمة المفاصل، مسببة التهابات وتدميرًا لها. ومن الممكن أيضًا أن يدمر جهاز المناعة أعضاء أخرى في الجسم مثل الرئتين والجلد. وفي بعض الحالات، يسبب المرض الإعاقة، مؤدية إلى فقدان القدرة على الحركة والإنتاجية. ويتم تشخيص المرض بواسطة تحاليل دم مخبرية مثل تحلي

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Publication Date
Thu Apr 01 2021
Journal Name
Biochemical And Cellular Archives
STUDY OF LYSYL OXIDASE-1 AND KIDNEY FUNCTION IN SERA OF IRAQI PATIENTS WITH DIABETIC NEPHROPATHY
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This study aimed to compare lysyl oxidase-1 level in diabetic patients with and without renal dysfunction, that LOX-1 may be an indicator for the early stage of diabetic nephropathy (DN). In addition to finding it is a relationship with kidney functions in Iraqi diabetic patients with and without renal dysfunction. Blood was obtained from 25 healthy individuals as a control group (G1), 25 diabetic patients with renal dysfunction, and 25 diabetic patients without renal dysfunction. Age range 40-60 years for all subjects. BMI (25-27) Kg/m2 . The serum was used for the analysis of LOX-1, FBG, urea, creatinine and uric acid. Whole blood is used for the determination of HbA1C. Results of FBG and HbA1C revealed a significant increase in G2 and G

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Publication Date
Wed Sep 14 2016
Journal Name
Journal Of Baghdad College Of Dentistry
Radiological Assessment of Mandibular Retromolar Canal (MRMC) Using CBCT-Radiographs in a Sample of Iraqi Patients
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Background: Because of its clinical and surgical importance and lack of precise information about this rare and important anatomical landmark, this study was designed to detect the presence, configurations and length of Mandibular Retromolar Canal (MRMC) with aid of CBCT visualization. Materials and methods: In this retrospective study the data was obtained from Specialist Health Center in AL-Sadder city in Baghdad for (100) patients with 200 inferior dental canal, all of them referred to CBCT scan (Kodak 9500, French origin). The scanning was done with tube voltage 90 kVp, tube current with 10mA and exposure time was 10 s., the field of view was measured with 5cm x 3.7cmwith 0.03mm voxel size Results: In the present study the prevalence of

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