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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
Mon Jan 01 2018
Journal Name
Current Research In Microbiology And Biotechnology
Detection of some Physiological and Immunological parameters in Iraqi clinical and subclinical hypothyroid patients: Relationship study
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The present study was performed to evaluate the level of some risk factors (biochemical and immunological) in hypothyroid Iraqi patients considering the different thyroid functional states (hypothyroidism and subclinical hypothyroidism).The study includes 82 patients clinically diagnosed with hypothyroidism. Three study groups have been investigated: (47 clinical hypothyroid patients, 12 subclinical hypothyroid patients 23 healthy individuals) of different ages. This study, show that the proportion of females (83.3 %), (87.2%) in subclinical and clinical hypothyroidisim respectively higher than the proportion of males (16.7%),(12.8%) in subclinical and clinical hypothyrodism respectively of the total patients.The majority of subclinical hyp

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Publication Date
Tue Sep 26 2017
Journal Name
The Gulf Journal Of Oncology
Effects of cranberry-PACs against urinary problems associated with radiotherapy in iraqi patients with bladder carcinoma
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Publication Date
Sat Apr 02 2022
Journal Name
Neuroquantology
The Role of Neudesin as a Novel Biomarker – in Iraqi Patients with Parkinson's Disease and Osteoporosis
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Neuron-derived neurotrophic factor [NENF], a human plasma neurotrophic factor, also increases neurotrophic activity in conjunction with Parkinson's disease-related proteins in Neudesin. Although Neudesin (neuron-derived neurotrophic secreted protein) is a member of the membrane-associated progesterone receptor (MAPR) protein subclass, it is not evolutionary related to the other members of the same family. The expression of Neudesin is found in both brain and spinal cord from embryonic stages to adulthood, as w Neudesin levels in Parkinson's patients with osteoporosis disease and Parkinson's patients without osteoporosis disease, as well as the relationship between Neudesin levels, Anthropometric and Clinical Features (Age, Gender, BMI) and

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Publication Date
Wed Mar 29 2017
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Evaluation of Trace Elements in Iraqi Patients with Rheumatoid Arthritis by using Atomic Absorption Spectrophotometer (AAS)
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Zinc, Copper, Selenium, Magnesium, Manganese, Chromium, Iron, Nickel, Cobalt, Vanadium and Germanium were determined by atomic absorption spectrophotometer (AAS) in blood serum of patients with rheumatoid arthritis, (30) patients (14male and 16female) with age range (37-60) years compared with normal tensive control. The analysis of results showed that the mean value of concentration (Magnesium,  Manganese and Nickel) were significantly higher in patients with rheumatoid arthritis compared to that of healthy, while the mean levels of serum (Zinc, Copper, Selenium, Chromium, Iron, Cobalt and Germanium) were significantly lower than controls. There were no significant changes in overall mean concentration of serum Vanadium in patients

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Publication Date
Wed Jul 30 2025
Journal Name
F1000research
Effect of mirabegron on lipid profile (serum cholesterol and triglyceride) in Iraqi patients with overactive bladder
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Background Mirabegron is a β3-adrenergic receptor (β3-AR) agonist indicated for the treatment of overactive bladder. β3-AR agonists are located in the urinary bladder and adipose tissue, where they are involved in the regulation of thermogenesis and lipolysis. Objective To evaluate the effect of mirabegron on lipid profile (serum cholesterol and triglyceride) and BMI in patients with OAB. Materials and Methods In the medical city complex (Ghazi AL-Hariri Hospital) urology outpatient clinic, a prospective study of 40 patients diagnosed with OAB. These patients took a single dose of mirabegron 50 mg for 4 months and assessed its effect during this period on weight and fasting serum (s.) cholesterol and triglycerides. Results Investi

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Publication Date
Tue Mar 28 2017
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Association of Admission Serum Resistin Level with Acute ST-Segment Elevation Myocardial Infarction in Iraqi Patients
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Human resistin is an adipokine, with a possible link to coronary heart disease.A few studies were done about resistin in acute phase of ST-segment elevation myocardial infarction (STEMI) especially in Iraqi patients. Accordingly we design a study to investigate the association between resistin concentration and acute phase of STEMI in Iraqi patients.

The present study was carried out at Al-Yarmouk Teaching Hospital from December 2011 until June 2012. Serum resistin levels were measured in 50 patients with acute STEMI (mean age: 58.16 ± 11.73 years) at the first 12 hours of admission and 34 normal controls (mean age: 53.98 ± 15.46 years) matched for age, sex and other risk factors.

 Resistin level in patients wi

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Publication Date
Sun Jun 04 2017
Journal Name
Baghdad Science Journal
Levels of Serum Lipid profile and Kidney Function Tests in Iraqi Hypertensive Patients: Duration Effect Study
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Hypertension is one of the leading causes of the global burden of disease, which causes serious health problems. The aim of this study is to investigate the lipid profile levels in sera of Iraqi hypertensive patients by measuring Total cholesterol (TC), triglyceride (TG) and low density lipoproteins (LDL) and kidney function levels by measuring uric acid, urea and creatinine. Seventy five individuals of Iraqi adults (Males) were divided into three groups: 25 hypertensive patients with duration of disease (1-10) year (group 1), 25 hypertensive patients with duration of disease (11-30) year (group 2) and 25 normal individuals as control group (group3). The findings indicate that serum (TC, TG and LDL) levels were significantly elevated (

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Publication Date
Mon Apr 04 2022
Journal Name
Neuroquantology
The Role of Adropin as a Novel Biomarker in Iraqi Patients with Parkinson's Disease and Osteoporosis
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Publication Date
Sun Mar 26 2017
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
The Effect of L-Carnitine as an Adjuvant Supplement on Lipid Profile in Iraqi Diabetic Patients
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Diabetes is a complex set of diseases require continuous medical care, to control blood sugar and prevent complications is .The aim of this research is to determine the effect of administration of   L carentin to diabetics on the   lipid profile. The research was conducted on sixty diabetic patients were selected from endocrinology and diabetes center / Al-Rusafa, within selected criteria. The patients divided into 3 groups (control group of healthy people and two groups of patients with diabetes who were on metformin and glibenclamide, one group took a L  carnitine in a dose of 1000 mg twice daily and a group dealing with a placebo for a period of 3 months continuously). The study found that patients who took Lc

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Publication Date
Sat Oct 19 2024
Journal Name
Baghdad Science Journal
The Impact of VDR-FokI Polymorphism in Iraqi Patients with Prostate Cancer and Prostate Benign Hyperplasia.
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استخدم تعدد الطرز الوراثية لمورث مستقبل  فيتامين د عند الموقع FokI لتقييم تاثيرتعدد الطرزالرواثية  على مستويات فيتامين د وهرمون الذكورة وهرمون الحليب في امصال مرضى سرطان البروستات وتضخم البروستات الحميد مقارنة بالأفراد الأصحاء.  تم تضخيم موقع الحصر FOKI لمورث مستقبل فيتامين د باستخدام تقنية TaqMan RT-PCR وجد أن الطراز الوراثيTT   له تأثير حماية من الاصابة  بسرطان البروستات وتضخم البروستات الحميد بنسبة 70% و50 % عل

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