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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 Jan 20 2023
Journal Name
Ibn Al-haitham Journal For Pure And Applied Sciences
Evaluation of Osteocalcin and Some Biochemical Marker in Diabetes Mellitus Iraqi Women's patients with Osteoporosis
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Diabetes mellitus is a set of metabolic diseases, the most prevalent of which is chronic hyperglycemia. The culprits include insulin synthesis, insulin action, or both. Osteoporosis is a progressive systemic skeletal disorder defined by decreased bone mass and micro architectural degeneration of bone tissue, resulting in increased bone fragility and fracture risk, according to the World Health Organization (WHO). The degree of Nervosa damage determines how much a diabetic patient's body has been compromised. The current study's goal is an estimation: Age, BMI, FBS, HbA1C, D3, ALP, Ca, P, and Osteocalcin in Iraqi T2DM Women's patients with and without Osteoporosis. Three vitamins are required for Osteocalcin biosynthesis: vitamin K for Gla f

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Publication Date
Sun Jul 30 2023
Journal Name
Al-rafidain Journal Of Medical Sciences
Correlation of Kidney Injury Molecule-1 and Nephrin Levels in Iraqi Patients with Diabetic Nephropathy
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Diabetic nephropathy is characterized by persistent microalbuminuria and metabolic changes that decline renal functions. Researchers have been prompted to explore new biomarkers such as KIM-1 and nephrin that may enhance the identification of disease. Objective: To Evaluate biomarker levels of kidney injury molculre-1 (KIM-1) concentration and nephrin as early and sensitive markers of nephropathy in type 2 diabetic patients. Method: One hundred T2DM patients were included in a cross-sectional study at the specialized center for endocrinology and diabetes, Baghdad. The first group includes 50 diabetic nephropathy (DN) patients, and the second group includes 50 T2DM patients without DN. Biochemical and clinical parameters were reported for pa

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Publication Date
Sun Dec 27 2020
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Estimation of Beta Two Microglobulins, Fetuin-A, Resistin Serum Level in Iraqi Multiple Myeloma Patients
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Multiple myeloma is hematological disease produces many complications in the bone, kidney, neural and other complications. The study aims to measure serum biomolecules like fetuin-A and resistin and determined the possibility to use these biomarkers as disease predictor. blood samples were isolated from 58 patients and 24 sex and age-matched control, serum then isolated, and proper ELISA kit then used to a determined level of B2 microglobulin, resistin, and fetuin-A. The result demonstrated significant increase in   B2 microglobulin, fetuin-A and resistin in patients compare to control (1.3470.714 vs. 0.9130.253), p = 0.000, (14.00310.352 vs. 9.2594.264), p= 0.005, (1.9673.595 vs. 0.6040.622), p = 0.009, respectively. &

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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
Sat Jul 19 2025
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
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
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
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
Thu Jul 03 2025
Journal Name
Circular Economy And Sustainability
Green Supplier Selection in the Iraqi Food Industry: Criteria Analysis and Barriers to Implementation
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This study explores the barriers to adopting green environmental criteria in Supplier Selection (SS) within the Iraqi food industry. It aims to enhance the understanding of sustainable supply chain management in developing nations, with a particular focus on the Iraqi context. A case study approach was utilized to identify eleven key green environmental criteria and 54 sub-criteria, alongside seven major barriers to their adoption. The Best–Worst Method (BWM) was employed to rank the criteria, and Fuzzy Stepwise Weight Assessment Ratio Analysis (SWARA) was used to prioritize the barriers. The analysis revealed that Environmental Management Systems are the most critical criterion for SS. On the other hand, legislation and policies emerged

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Publication Date
Thu May 05 2022
Journal Name
Al-kindy College Medical Journal
Evaluation of podophyllin and Trichloroacetic acid for the treatment of genital warts in Iraqi female patients
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Background: human paillomavirus infections (genital warts) are the most frequent sexually transmitted viral infections. a wide range of treatment options is available with different efficacy.

Objective: To evaluate the efficacy of podophyllin, trichloracetic acid (TCA) in the treatment of genital warts and side effects of them.

Subjects and methods: a total of sixty patients with genital warts were randomly selected, 30 in each group, in the Department of Dermatology, medical city for a Duration of 11 months from January 2009 to December 2009 treated with 35 % podophyllin in the tincture of benzoin or 50%  TCA) .Forty-eight patients were followed up for three months.

Results: wart

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