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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 Jan 14 2016
Journal Name
International Journal For Sciences And Technology
Evaluation of her/2-neu gene status using FISH/CISH techniques in Iraqi breast carcinoma patients
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The present study aimed to examine the concordance between FISH/CISH techniques for assessment of amplification of her2neu gene in Iraqi breast carcinoma patients. Seventy four (74) Iraqi breast cancer patients were involved at the study from the Histopathology Department at the Central Public Health Laboratory in Bagdad, Iraq. Amplification of HER2neu was detected in (33.8%) by fluorescence in situ hybridization and (13.51%) showed high amplification by chromogenic in situ hybridization and (32.43%) showed low amplification. The results of chromogenic in situ hybridization were significantly correlated with the results of two-color fluorescence in situ hybridization with the same tumors. In addition, the study involved the correlation betw

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Publication Date
Sun Jun 21 2020
Journal Name
Baghdad Science Journal
Detection of Aflatoxin B1 among Early and Middle Childhood Iraqi Patients
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      The study was conducted for the detection of Aflatoxin B1(AFB1) in the serum and urine of 42 early and middle childhood patients (26 male and  16 female ) with renal function disease, liver function disease, in additional to atrophy in the growth and other symptoms depending on the information within consent obtained from each patient, in addition to 8 children, apparently healthy, as  the control. The technique of HPLC was used for the detection of AFB1 from all samples. The results showed that out of 42 patient children, 19 (45.2%) gave positive detection of AFB1 in the serum among all age groups patients with a mean of 0.88 ng/ml and a range of (0.12-3.04) ng/ml. This was compared with the cont

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Publication Date
Fri Oct 01 2010
Journal Name
J Saudi Soc Dermatol Dermatol Surg
Outbreak of Thallium poisoning among Iraqi Patients: A case descriptive study
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KE Sharquie, GA Ibrahim, AA Noaimi, HK Hamudy, J Saudi Soc Dermatol Dermatol Surg, 2010 - Cited by 2

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Publication Date
Mon Jan 01 2007
Journal Name
Saudi Medical Journal
Acral lentiginous melanoma versus lentigo maligna melanoma among Iraqi patients
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S Khalifa E, AM Sabeeh A, AN Adil A…, 2007

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Publication Date
Mon Jun 30 2014
Journal Name
Al-kindy College Medical Journal
Surgical variables analysis of 116 cases of ovarian cystic diseases in Al- Elwiya maternity teaching hospital at 2013
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Background: The treatment of an ovarian cyst relies on its nature, the discrimination of benign and malignant cysts is, therefore of crucial importance, and in spite of the continuous improvement of diagnostic means, it remains sometimes impossible to differentiate functional from organic (malignant or not) ovarian cysts. The therapeutic decision will search for the main midway between cancer’s negligence and the fear of performing an unnecessary surgical operation for an ovarian cyst.Objective: To review of 116 cases of ovarian cystic diseases aiming in identify proper management and reducing unnecessary surgical intervention.Methods: A retrospective study was conducted at Al-Elwiya maternity teaching hospital/ Baghdad/ Iraq. One hund

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Publication Date
Fri Dec 01 2023
Journal Name
Baghdad Science Journal
Determining ACE-2 Level and Some Relevant Biochemical Parameters and studying the effect of Gender in Iraqi Diabetic Patients with Glomeruli and Renal Tubules Fibrosis as Early Prediction Marker
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     Diabetic kidney disease is an illness of the glomerulus that interferes with the glomerular filtration barrier (GFB), which is worked to enable kidney to selective purification of water and solutes in addition to limiting the movement of large macromolecules such as albumin. In the glomerular endothelium, mesangial cells, foot cells, and the brush border of the proximal tubules, ACE-2 is expressed and that the kidneys represent the highest-expressing region of this enzyme. Thus, the current study aimed to evaluate ACE-2 level in this case compared to healthy condition. The study Conducted with 120 male and female ranging in age (30-65) years old. Ninety patients with type 2 diabetes subdivided into three groups on the basis of A

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Publication Date
Wed Oct 16 2019
Journal Name
International Journal Of Research In Pharmaceutical Sciences
Assessing quality of life among sample of iraqi patients with rheumatoid arthritis
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Rheumatoid arthritis is one of the common chronic disease, which lead to great disability and chronic pain, and has a main adverse economic and social effect upon patients. The reason for the addition of quality of life as a pointer for health outcome result is attributed to the affectability of this measure for the evaluation of patient's health status after taken treatment and its health outcome. The purpose of the current study was to assess quality of life among a sample of Iraqi patients with rheumatoid arthritis and to determine the possible association between health’s related quality of life and some patient-certain factors. This study is a cross-sectional study carried out on 250 already diagnosed rheumatoid arthritis pat

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Publication Date
Sun Jun 04 2023
Journal Name
Iraqi Journal Of Biotechnology,
Gene Expression of Adenosine Deaminase Genes 1 and 2 in Female Iraqi Patients with Autoimmune Thyroid Disease
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The current study was carried out to investigate the correlation of gene expressions of ADA1 and ADA2 genes with the development of autoimmune thyroid disease (AITD) in a sample of Iraqi females. One hundred patients with AITD and 80 controls were included. Quantitative real time polymerase chain reaction (qRT–PCR) was utilized for investigation of ADA1 and ADA2 gene expression among patients and controls. The correlation of age and body mass index (BMI) with AITD occurrence comparing with controls was studied. Based on the results of this study, there is high expression level of ADA1 and ADA2 genes in patients compared with healthy controls; also, the gene expression fold (2-ΔΔCT) of ADA1 and ADA2 among AITD patients was recorded and a

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Publication Date
Sat Apr 30 2022
Journal Name
Pakistan Journal Of Medical And Health Sciences
Role of Progranulin and its Implication in Knee Osteoarthritis among Iraqi Patients
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Background: Osteoarthritis is a complicated, chronic disorder of cartilage and bone, associated with homeostasis of bio-elements. The current study aims to assess the role of serum progranulin levels among Iraqi patients with knee osteoarthritis. Patients and Methods: The study encompassed 50 patients aged 52.50 ± 3.12 years (25 males and 25 females), admitted to the at the Baghdad Medical City through the period from November 2021 to March 2022. All individuals were identified by physicians in a Rheumatology and Rehabilitation Outpatient Clinic and the clinical data was collected along with the assess¬ment of biochemical parameters. Fasting serum glucose, lipid profile, calcium, magnesium, alkaline phosphatase, vitamin D3, and p

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Publication Date
Fri Sep 01 2017
Journal Name
Gulf Journal Of Oncology
Clinical and Pathological Characteristics of Triple Positive Breast Cancer among Iraqi Patients
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Background: Breast cancer is the most common malignancy affecting the Iraqi population and the leading cause of cancer related mortality among Iraqi women. It has been well documented that prognosis of patients depends largely upon the hormone receptor contents and HER-2 over expression of their neoplasm. Recent studies suggest that Triple Positive (TP) tumors, bearing the three markers, tend to exhibit a relatively favorable clinical behavior in which overtreatment is not recommended. Aim: To document the different frequencies of ER/PR/HER2 breast cancer molecular subtypes focusing on the Triple Positive pattern; correlating those with the corresponding clinico-pathological characteristics among a sample of Iraqi patients diagnosed with th

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