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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 Dec 30 2011
Journal Name
Al-kindy College Medical Journal
Increase serum leptin level in Helicobacter pylori infection in Iraqi gastritis patients
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Background: H.pylori colonized gastric mucosal
epithelium will virtually develop gastritis and had the
capacity to persist for decades. Pathogenesis is
dependent upon strain, virulence host genetic
susceptibility, and environmental cofactors. Leptin is
a member of the class 1 cytokine family so altered
leptin production during ifnect and inflammation that
leptin part of the cytokine cascade ,which
orchestrates the defense mechanism.
Objective: Examin the effect of H.pylori infection
on serum leptin level.
Methods: One hundred and thirty(130) Patients
attending the Endoscopic Unit at "Gastroenterology
and Hepatology Teaching Hospital/ Baghdad Medical
City"were included in this study with ages rang

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Publication Date
Tue Jan 01 2019
Journal Name
Journal Of Clinical And Diagnostic Research
Thiopurine S-Methyltransferase Polymorphism in Iraqi Paediatric Patients with Acute Lymphoblastic Leukaemia
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Publication Date
Tue Aug 23 2022
Journal Name
International Journal Of Health Sciences
Association between periostin and bone minerals in osteoporosis and osteopenia Iraqi patients
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Background: osteoporosis is characterized by a reduction in bone mineral density, skeletal microstructure breakdown, increased bone fragility, and fracture susceptibility. Osteopenia is the preceding step to osteoporosis because it causes a decrease in bone mass, osteoporosis reduces a person's quality of life. Periostin (encoded by Postn), its name is derived from the fact that it was first detected in periosteal osteocytes and osteoblasts. Periostin deficiency has been linked to osteoporosis and weak bones. Study objectives: The purpose of this study was to determine periostin levels in serum of Iraqi patients with osteoporosis and osteopenia, and it is also possible to consider periostin as a diagnostic factor to follow the progression o

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Publication Date
Wed Dec 30 2015
Journal Name
Al-kindy College Medical Journal
Subclinical Hypothyroidism in Obese Iraqi Patients Attending Obesity Research and Therapy Unit
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ABSTRACTBackground Subclinical hypothyroidism is mild thyroid hormone deficiency, defined by elevation of serum thyroid-stimulating hormone concentration despite a normal free T3, free T4 level, can be distinguished by clinical and circumstantial observations from other conditions that cause this constellation of laboratory findings. The aim is to find the prevalence, anthropologic, and metabolic changes associate subclinical hypothyroidism(SH) in adult patients presented to obesity research and therapy unit (ORTU Objective: To find the prevalence of subclinical hypothyroidism (SH) in adult obese patients presented to obesity research and therapy unit (ORTU) in AL-Kindy College of medicine and to describe the anthropologic and metabolic

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Publication Date
Sat Feb 01 2020
Journal Name
Meta Gene
Waterpipe tobacco smoking and gene variants of CYP1A1-Ile462Val and -MspI polymorphisms are possibly associated with the risk of lung cancer in the Iraqi population
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Background: Previous studies about the correlation of genetic polymorphisms in the multigene family of cyto- chrome P450 (CYPs), the effect of tobacco smoking, and the risk of developing cancer have been well in- vestigated in different populations, but not in Iraq. Furthermore, the studies of malignance occurrence re- lationship with cigarette tobacco smoking revealed the presence of strong association, however, little is known about the risk of Waterpipe (WP) tobacco smoking. Thus, determination two important genetic polymorphisms in CYP1A1, a main member of CYPs, among Iraqi men was our first aim. This is the first study that highlights the correlation of CYP1A1 polymorphisms with the risk of lung cancer in Iraq. The second aim was to ev

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Publication Date
Mon Feb 15 2021
Journal Name
Nursing Open
Recitation of quran and music to reduce chemotherapy‐induced anxiety among adult patients with cancer: A clinical trial
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Abstract<sec><title>Aim

The aim of this study was to assess the effectiveness of listening to music or Quran in reducing cancer patients’ anxiety before chemotherapy administration. Reducing anxiety in people with cancer, prior to chemotherapy administration, is a crucial goal in nursing care.

Design

An experimental comparative study was conducted.

Methods

A simple randomization sampling method was applied. Two hundred thirty‐eight people with cancer who underwent chemotherapy were participated. They are assigned as Quran, music and control groups.

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Publication Date
Tue Aug 30 2022
Journal Name
Research Journal Of Pharmacy And Technology
The Distribution of ABO blood groups among type 2 Diabetes mellitus patients with or without Chronic Microvascular Complications
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The ABO blood group system is highly polymorphic, with more than 20 distinct sub-groups; study findings are usually related to ABO phenotype, but rarely to the ABO genotype and animal models are unsatisfactory because their antigen glycosylation structure is different from humans. Both the ABO and Rh blood group systems have been associated with a number of diseases, but this is more likely related to the presence or absence of these tissue antigens throughout the body and not directly or primarily related to their presence on RBCs. A total of fifty-two 52 patients without complication of DMII, two hundred sixteen 216 patients with complication of DMII and seventy-one 71 person as healthy control were included in the study. The resu

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Publication Date
Wed Jan 30 2013
Journal Name
Al-kindy College Medical Journal
Incidence of Vertigo distribution among young adult and elderly in patients attending Al-Diwaniya Teaching Hospital . Al-Diwaniya.
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This study is prospective in nature, It consider
110 patients with vertigo who were assessed
between April and December 2010 at E.N.T out
patient department of otolarygiology, in Al
Diwania teaching hospital, in Diwania city,
Iraq. The study is designed to assess the
incidence of vestibular and non vestibular
vertigo and their association with
tinnitus,hearing loss,migraine in Young adult
and elderly.All patients were assessed by
questionary method and by pure tone
Audiometry.
Results: the incidence of vestibular vertigo was
69.1% while non vestibular vertigo is 30.9 %,
vestibular vertigo was inversely related to the
age while non vestibular vertigo directly related
to the age
The percen

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Publication Date
Sat Sep 15 2018
Journal Name
Journal Of Baghdad College Of Dentistry
Salivary Matrix Metalloproteinase-8 (MMP-8) in Relation to Periodontal Health Status Among a Group of Hypertensive Patients
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Background: Hypertension is probably the most important public health problem around the world. People with periodontal disease may be at greater risk of hypertension. The inflammatory effects of periodontal disease help to promote endothelial dysfunction in arteries which may lead to changes in blood pressure. Salivary MMP-8 has been associated with both periodontal disease and prevalent hypertension. Aim of study: This study was conducted to measure salivary matrix metalloproteinase - 8, in relation to periodontal health condition among a group of patients with hypertension in comparison with control group. Materials and methods: Ninety subjects, aged 45-50 years old were included in this study, seeking treatment for chest pain in Ibn-A

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Publication Date
Mon Dec 25 2017
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Assessing Quality of Life Among Patients with Diabetes Mellitus, Hypertension or Both Diseases in Al-Najaf Province /Iraq
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this study deals with effect of diabetes and hypertension on quality of life

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