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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
Tue Jul 05 2022
Journal Name
Journal Of Pharmaceutical Care
Epidemiological and Clinical Factors Affecting the Response to Etanercept Among Patients with Rheumatoid Arthritis
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Publication Date
Mon Mar 13 2017
Journal Name
Journal Of Baghdad College Of Dentistry
White Spot Lesions Among Patients Treated With Fixed Orthodontic Appliance at Different Time Intervals
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ABSTRACT Background:- White spot lesions are common esthetic problem that compromise the success of orthodontic treatment. This study aimed to assess white spot lesions in patients with fixed orthodontic appliance at different time intervals. Materials & Methods:- Thirty two patients (24 females and 8 males) were included in this study and they underwent clinical examination for white spot lesions using enamel decalcification index at four time intervals: (2-3 weeks after appliance insertion, 2, 4 and 6 months). Results:- The patients were free of white spot lesions at the appliance insertion visit. The mean of white spot lesions was 2.22 which were increased significantly during six months to reach 24.59 at the end of study. There was a si

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Publication Date
Tue Jul 16 2024
Journal Name
Experimental Parasitology
Relationship between the serum level, polymorphism and gene expression of IL-33 in samples of recurrent miscarriage Iraqi women infected with toxoplasmosis
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Publication Date
Wed Mar 24 2021
Journal Name
Indian Journal Of Forensic Medicine &amp; Toxicology
Study of Epstein - Barr virus Infection in Relation to the Immunohistochemical Expression of Bcl-2 gene in Tissues of Patients with Adenocarcinoma of the Colon
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Background: EBV infection in tissue micro-environment is challenged by the precisely regulated survivaland apoptosis mechanisms. Abnormal bcl-2 proto-oncogene expression in colonic carcinomas allowsaccumulation and propagation of these genetically altered cells.Objective: To analyze the relevant concordance of BCL-2 gene , EBNA1 s and LMP-1-EBV expression inissues from a group of Iraqi patients with colonic adenocarcinomas.Patients and Methods: One hundred (100) tissue biopsies, belonged to (40) patients with colorectalcancers, (40) patients with benign colon tumors, and (20) apparently normal colorectal control tissues,were enrolled in this study. The detection of EBNA1 s and LMP-1-EBV as well as BCL-2 was done byimmunohistochemist

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Publication Date
Sun Oct 03 2010
Journal Name
Journal Of Educational And Psychological Researches
Post Traumatic Stress Disorder (PTSD) among Iraqi Intellectual Immigrants after Occupation 2003.
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These factors, as well as disasters and wars that the Arab homeland exposed to and still under this exposure, in addition to the severe stress upon.

Iraqi Academics have been subjected to direct consequences of 2003 war. Exact figures are not known. It was mentioned. Many people were killed, sacked from their academics jobs, threatened to leave directly or indirectly their jobs, houses, and Iraq. Others have been imprisoned, tortured, or kidnapped / threatened to be kidnapped etc. Their families have been subjected to similar traumatic experiences or threats. All theses stressors may have lead to Post Traumatic (PTSD) Experiences. These Traumatic experiences have lead to Dislocation, relocation and Immigration etc. All sectors of

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Publication Date
Wed Sep 26 2018
Journal Name
International Research Journal Of Pharmacy
DENTAL PHARMACOLOGICAL KNOWLEDGE AMONG IRAQI MOTHERS AND ITS IMPACT ON THEIR CHILDREN
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Publication Date
Wed Jan 01 2014
Journal Name
Pharmacology &amp;amp; Pharmacy
Gift Acceptance and Its Effect on Prescribing Behavior among Iraqi Specialist Physicians
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Publication Date
Sat Apr 01 2023
Journal Name
Baghdad Science Journal
Correlation Expression between P52 and BCL2 among Iraqi Women with Breast Carcinoma
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Publication Date
Sun Jun 20 2021
Journal Name
Baghdad Science Journal
Hypothyroidism and Leptin in Iraqi Patients with Chronic Kidney Disease
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The present study aims at assessing the effects of chronic kidney disease (CKD) on thyroid hormone and leptin by evaluating the level of: leptin hormone along with thyroid hormone in CKD patients. The study has been conducted on  70 subjects, 50 patients with an age range between 20-50 years (25  males and 25 females) who were diagnosed to have CKD stage-5, and 20 normal controls whose ages ranged between 20-48 years (10  males and 10 females), who attended  the Nephrology and Transplant Center in Medical City of Baghdad- Iraq from April  2018  to July  2018. The study showed a highly significant (P<0.01) increase in TSH level in CKD patients in comparison with controls. While T3 and T4 levels observed highly significant decrea

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Publication Date
Tue Mar 30 2021
Journal Name
Baghdad Science Journal
Hypothyroidism and AMH in Iraqi Patients with Chronic Kidney Disease
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This study was conducted to investigate thyroid function and Anti-Müllerian hormone (AMH) in (Chronic kidney disease) CKD patients by evaluating their levels in CKD patients, 50 patients were diagnosed to have CKD stage-5, their ages ranged between 20-50 years (25 males and 25 females) who attended the Nephrology and Transplant Center in Medical City of Baghdad- Iraq, they were recruited from April 2018 to July 2018 and were enrolled into the study. The control group consisted of 20 healthy individuals, their ages ranged between 20-48 years (10 males and 10 females). The study showed non-significant (p>0.05) increase in AMH level in CKD patients compared to the control group. On the other hand, TSH was recorded a highly significant (

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