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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 May 01 2020
Journal Name
Systematic Reviews In Pharmacy
Methotrexate effect on obestatin, progranulin and kidney function in RA Iraqi males patients
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Methotrxate (MTX) has become the standard of care and first-line therapy for patients who have RA and consider as a gold standard of treatment for RA. The role of MTX in the treatment of RA has now been well established. The use of MTX treatment of RA inhibits proliferation of the lymphocytes, reduces signs and symptoms this disease, reduces progression damage of the joints and improves quality of life outcome. Progranulin (PGRN) acts a role in autoimmune inflammatory, has important function in several processes including immune response. Present study has conducted to find the effect of MTX drugs as a therapeutic target for RA patients because of its ability to bind with tumor necrosis factor receptor (TNFR), with progranulin, obestatin an

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Publication Date
Tue Jan 02 2018
Journal Name
Journal Of The Faculty Of Medicine Baghdad
Serological markers “CEA test &amp; sAPRIL test” in Iraqi patients with colon cancer
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Background: Colonic cancer is a very common disease world-wide being fourth most common cancer characterized by abnormal proliferation of the inner wall of colon then taking full colon wall thickness then spreading to surrounding lymph nodes and tissues and finally distant metastasis. It is one of most complicated diseases with debilitating symptoms which becomes more sever , prominent and specific with advancing stage with high percent of fatality and relatively short survival if diagnosed late or if left untreated.Objective: To evaluate the efficacy of serum CEA & sAPRIL levels in the diagnosis and screening of colon cancer and their validity for this.Patients and methods: This study was applied on 35 patients with colonic can

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Publication Date
Fri Mar 01 2024
Journal Name
Baghdad Science Journal
Evaluating the Fibroblast Growth Factor-23 and Phosphate in Iraqi Patients with Acromegaly
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Fibroblast growth factors-23 (FGF-23) are a class of cell signaling proteins produced by macrophages. They have a range of roles, but they play a particularly important role in the development of animal cells, where they are essential for appropriate growth. Phosphate, which is found in the body as both organic and mineral phosphate, plays crucial roles in cell structure, communication, and metabolism. Most phosphate in the body resides in bone, teeth, and inside cells, with less than 1% circulating in serum. The aim of the study is to evaluate the levels of the Fibroblast Growth Factors-23 and phosphate and receiver operating characteristic (ROC) in acromegaly patients against healthy control. A case control study Fibroblast Growth Fact

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Publication Date
Mon Jun 08 2020
Journal Name
Medical Sciens
COVID-19 clinical characteristics and outcomes in 60 hospitalized Iraqi patients -Case series
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Background: since December 2019, China and in particularly Wuhan, faced an unprecedented an outbreak challenge of coronavirus disease 2019, caused by the severe acute respiratory syndrome coronavirus 2. Clinical characteristics of Iraqi patients with COVID-19 and risk factors for mortality needed to be shared with the health care providers to improve the overall disease experience. Methods: prospective, single-center study recruited patients with confirmed SARS-CoV-2 infection who were admitted to Al-Shifaa Isolation Center / Baghdad Medical City between the mid of March and the end of April 2020 until had been discharged or had died. Demographic data, information on clinical signs, symptoms, at presentation, treatment, have been collected

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Publication Date
Fri Mar 03 2023
Journal Name
World Journal Of Biology Pharmacy &health Science
Ventricular septal defect in children and adults by echocardiography study in Iraqi patients
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A ventricular septal defect (VSD) is defined as a communication between the left and right ventricles or between the left ventricle and the right atrium. VSDs are amongst the most common abnormalities of the heart. They can be present in isolation or in association with other congenital cardiac abnormalities. This is study done with the aim to evaluate the types, size, associated CHD with ventricular septal defect in children and adolescent in two cardiac centers (Medical City Complex cardiac clinics, Ibn Al Nafaes teaching hospital) in Baghdad - Iraq

Publication Date
Thu Sep 01 2022
Journal Name
Journal Of Medicine And Life
Arrhythmia related to hypertensive left ventricular hypertrophy in Iraqi patients: frequency and outcome
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Left ventricular hypertrophy (LVH) caused by high blood pressure is linked to increased mortality and arrhythmia risk. This study aimed to evaluate arrhythmia in hypertensive patients due to left ventricular hypertrophy (LVH). A cross-sectional study was performed, assessing participants' blood pressure, echocardiography and electrocardiography, and Holter monitoring in certain cases. There were 300 hypertensive patients >18 years attending the cardiology unit of Baghdad medical city. The study was conducted between January–June 2022. The electrocardiograms at rest for 300 adults with hypertension were investigated. 130 (43.5%) were females, and 170 (56.5%) were males. The mean age of participants was 58 years. Forty-nine (16.3

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Publication Date
Mon Jun 27 2022
Journal Name
Al-rafidain Journal Of Medical Sciences ( Issn: 2789-3219 )
Self-Reported Sleep Disorder, Anxiety and Depression in Iraqi Patients Post-Myocardial Infraction
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Background: Myocardial infarction (MI) is distinguished by the necrosis of myocardial cells as a result of substantial and prolonged ischemia. Anxiety, problems sleeping, and feelings of depression are some of the most common psychosocial consequences of having a myocardial infarction. Aim: The purpose of this study is to evaluate the effects of post-myocardial infarction on patients' levels of anxiety, depression, and quality of sleep. Method: The collection of data from 94 individuals with MI was carried out according to a descriptive cross-sectional design. Sleep quality, depression, and anxiety were evaluated using standard questionnaires. Results: 69.1% of the participants reported having trouble getting quality sleep. The perc

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Publication Date
Wed May 10 2023
Journal Name
Dermatology Research And Practice
Interleukin-15 and Tumor Necrosis Factor-α in Iraqi Patients with Alopecia Areata
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Background. Alopecia areata (AA) is a common form of noncicatricial hair loss of unknown cause, affecting 0.1-0.2% of the general population. Most evidence supports the hypothesis that it is disease of the hair follicle of autoimmune nature mediated by T-cells, with important cytokine role. Objective of the Study. The objective of this study is to study the association and changes in serum levels of interleukin-15 (IL-15) and tumor necrosis factor-α (TNF-α) in patients with AA in relation to the type, activity, and disease duration. Patients and Methods. Thirty-eight patients with AA and 22 individuals without the disease as controls were enrolled in this case-controlled study conducted in the Department of Dermatology in the Al-K

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Publication Date
Fri Dec 31 2021
Journal Name
Iraqi Journal Of Market Research And Consumer Protection
GEOMETRY OPTIMIZATION OF COUPLING ALLIN -METFORMIN USING DFT/B3LYP MOLECULAR MODELLING TECHNIQUE: GEOMETRY OPTIMIZATION OF COUPLING ALLIN -METFORMIN USING DFT/B3LYP MOLECULAR MODELLING TECHNIQUE
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This researchpaper includes the incorporation of Alliin at various energy levels and angles 

With Metformin using Gaussian 09 and Gaussian view 06. Two computers were used in this work. Samples were generated to draw, integrate, simulate and measure the value of the potential energy surface by means of which the lowest energy value was (-1227.408au). The best correlation compound was achieved between Alliin and Metformin through the low energy values where the best place for metformin to b

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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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