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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
Sun Sep 01 2019
Journal Name
Meta Gene
Association of HLA-G + 3142G &gt; C gene polymorphism and toll-like receptor-9 serum level in systemic lupus erythematosus patients
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Background: Human leukocyte antigen-G (HLA-G)and Toll-like receptor-9 (TLR-9)play a role in the regulation of autoimmune diseases and inflammatory processes. Aim of the study: To detect the HLA-G + 3142G > C gene polymorphism that associated with the susceptibility to SLE patients and associated with Hepatitis B infection and TLR-9 serum level. Patients and methods: This study was done on 75 SLE patients and 75 healthy control groups. Genotyping of HLA-G + 3142G > C were detected by PCR and PCR-RFLP methods. In addition to the estimation of Hepatitis B surface (HBs)antigen status by immunochromatography technique and TLR-9 serum level by ELISA technique. Results: The HLA-G + 3142G > C gene polymorphism between the SLE patients and controls

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Publication Date
Mon Mar 08 2021
Journal Name
Baghdad Science Journal
Gender differences in achievements among students of the Iraqi college of medicine
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This study was conducted to test the hypothesis that the duration of time spent by the student inside the examination rooms answering the all kinds of written ex-amination questions has some kind of a positive effect on the final score he will get from that exam. And if there arc gender differences in this respect. Students and methods: Data on the final examinations of the autumn quarter was gathered on 892 examina-tions conducted at the end of this quarter , this included male participants of 566 and females of 326. Examinations were on twenty different subjects , including all of the first five years of the undergraduate students of Iraqi College of Medicine for the academic year 2002 — 2003 . The scheduled time of the examinations was

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Publication Date
Wed Jan 30 2013
Journal Name
Al-kindy College Medical Journal
Wilson's Disease; Clinical Presentations among Patients Attending Gastroenterology Clinic/ Baghdad Teaching Hospital
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Background:Wilson’s disease (WD) is an inherited
disorder of copper metabolism that is characterized
by tremendous variation in the clinical presentation.
Objective: To assess demographic distribution,
clinical presentations, diagnostic evaluation, and any
association between clinical presentations and other
studied variables of a sample of Iraqi patients with
WD.
Methods: A descriptive cross sectional study with
analytic elements was conducted during 2011, from
the 1st of February till the 10th of June. The sampling
method was a convenient non-random one, carried
out through consecutive pooling of registered WD
patients. A questionnaire-form paper had been
developed for the process of data col

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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)
The Prevalence of Microorganisms in H1N1 Patients Compared to Seasonal Influenza in a Sample of Iraqi Patients
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This study provides valuable information on secondary microbial infections in H1N1 patients compared to Seasonal Influenza in Iraqi Patients. Nasopharynx  swabs were collected from  (12 ) patients  infected with Seasonal influenza (11  from Baghdad  and 1 Patient from south of Iraq) ,and ( 22 ) samples from patients with 2009 H1N1 ( 20 from Baghdad and  2 from  south of Iraq). The results show that the patients infected with 2009 H1N1 Virus were younger than healthy subjects and those infected with seasonal influenza. And the difference reached to the level of significance     (p< 0.01) compared with healthy subjects.Two cases infected with 2009 H1N1 virus (9.1%) were fro

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Publication Date
Fri Oct 23 2020
Journal Name
Medico-legal Update
Levels of Some Cytokines in Iraqi Patients with Multiple Myeloma
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Publication Date
Sat Oct 01 2022
Journal Name
The Egyptian Journal Of Hospital Medicine
Evaluation of Certain Physiological Biomarkers in Iraqi Endometrial Carcinoma Patients
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Background: Endometrial Cancer (EC) is the malignant tumor originating from endometrium cell (lining of the uterus). EC incidence and mortality have increased in recent years. Routinely used methods for EC diagnosis and treatment are histopathological tissue culture after surgery and postoperative radiotherapy, however there is still not enough efficient treatment for recurrence or progression of this disease. So, there is a critical need for further EC identification by new biological ways for the prognostic diagnosis of it. Objective: This study aimed to look for ways by which could help in diagnosis of EC before the hysterectomy. Materials and Methods: 55 patients with EC and 57 healthy women were involved in this study (up to 45 years)

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Publication Date
Thu Mar 30 2017
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Determination of Enzymatic Antioxidant in Iraqi Patients with Chronic Gastritis
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Infection of the gastric mucosa with Helicobacter pylori is strongly associated with chronic gastritis, peptic ulcer and gastric cancer. Helicobacter pylori virulence factors include a variety of proteins that are involved in its pathogenesis, such as VacA and CagA. Another group of virulence factors is clearly important for colonization of H.pylori in the gastric mucosa. These include urease, motility factors (flagellin), and Superoxide dismutase (SOD). Because of this organism's microaerophilic nature and the increased levels of reactive oxygen in the infected host, we expect that other factors involved in the response to oxidative stress are likely to be required for virulence. Superoxide dismutase is a near

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Publication Date
Tue Oct 12 2021
Journal Name
Neuroquantology
Biochemical Aspects in Sera of Iraqi Patients with Trigeminal Neuralgia
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Trigeminal Neuralgia (TN) is one of the most commonly painful cranial neuralgia characterized by paroxysmal attacks as short lasting facial pain along the trigeminal nerve branches. The aim of the present study is to innovate a biochemical relationship between (melatonin, GALNT12 and Zn) and TN and also to examine the biochemical action of tegretol (carbamazepine) as a treatment on the above biochemical parameters. Blood samples were collected from fifty four (54) trigeminal neuralgia patients diagnosed by magnetic radiation image (MRI). Patients were classified into four groups: G3 (40- 70) years composed of (12) diagnosed male (without treatment), G4 (48- 75) years composed of (12) diagnosed female (without treatment), G5 (34- 76)

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Publication Date
Fri Oct 01 2010
Journal Name
Iraqi Journal Of Community Medicine
Clinico-epidemiological and Histopathological Study of Syringoma in Iraqi Patients
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KE Sharquie, HA Hassan, AA Noaimi, IRAQI JOURNAL OF COMMUNITY MEDICINE, 2010

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Publication Date
Wed Sep 18 2024
Journal Name
World Academy Of Sciences Journal
Impact of gene expression of NFE2L2 on serum superoxide dismutase and hemeoxygenase‑1 levels in patients with type 2 diabetes and retinopathy
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