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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 Dec 13 2018
Journal Name
Iraqi National Journal Of Nursing Specialties
The Effect of Toxoplasma Gondii on DNA SequenceAlteration among BreastCancer Patients
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Objective: The study aims to determine the effect of Toxoplasma gondii infection on the
genetic sequence of breast cancer patients in the Medical City Hospital – Tumor Unit /
Iraq-Baghdad.
Methodology: A study was carried out in the City of Medicine / Oncology Unit / Baghdad,
during the period 1st June 2016 to 15
th March 2017. Forty samples of tissue and serum
were collected from patients who complaining from Breast cancer and infected with
Toxoplasmosis. Forty sera samples were taken from patients complaining from parasitic
infection only; without breast cancer as control group. Data is analyzed by using of
descriptive and inferential data analysis methods.
Results: The results show that there is an effe

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Publication Date
Tue Dec 30 2008
Journal Name
Al-kindy College Medical Journal
Rate of Schneiderian First Rank Symptoms among Newly Diagnosed Schizophrenic Patients
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Background: Schneiderian first rank symptoms are
considered highly valuable in the diagnosis of
schneideria.
They are more evident in the acute phase of the
disorder and fading gradually with time. Many studies
have shown that the rate of these symptoms are
variable in different countries and are colored by
cultural beliefs and values.
Objectives: To find out the rate of Schneiderian first
rank symptoms among newly diagnosed schizophrenic
patients, to assess which symptom(s) might
predominate in those patients, and to find out if there
is/are any correlation(s) between the occurrence of
these symptoms and the sex of the patients.
Methods: Out of twenty-four patients with no past
psychiatric hi

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Publication Date
Fri Nov 08 2024
Journal Name
International Journal Of Language Testing
Validation of C-Test among Iraqi EFL University Students
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Publication Date
Sat Jan 09 2021
Journal Name
Medico Legal Update
Knowledge and Attitudes of Vaccination among Iraqi Pharmacy Students
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Objective: Since the vaccination rate is largely affected by low knowledge and negative attitudes ofhealthcare professionals, so this study aimed to weigh up the vaccination knowledge and attitudes ofpharmacy students.Method: A pilot study using a survey to investigate demographic data, knowledge (20 questions), andattitudes (5 questions) of 156 fifth year and 121 third year pharmacy students from College of Pharmacy/University of Baghdad.Results: The mean score of knowledge and attitudes was intermediate (16.654 and 14.917 out of 25 for thefifth and the third grades, respectively) with a significant difference between the two groups, the studentsshown to have favorable attitudes about vaccination. The score of the students is not i

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Publication Date
Sat Nov 03 2018
Journal Name
Iraqi National Journal Of Nursing Specialties
Assessment Types of Domestic Violence Among Iraqi Pregnant Women
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Objective : A descriptive analytical study was conducted on pregnant women who face domestic
violence and receive antenatal services from obstetric wards ikou^V Ctemal ^4M^vrAd\vQ^Ms> "&
Baghdad city, to identify the types of domestic violence on pregnant woman.
Methodology : A purposive sample of one hundred pregnant women with domestic violence was
selected. Data were collected through questionnaire, the period extended from the 20th Feb to the 3rd
May 2006. Descriptive and inferential statistical procedures were used to analyze the data.
Results : The result of the study showed that the highest percentage (26%) of the study sample their
age ranges from (30 - 34) years, most of them were housewife with low s

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Publication Date
Mon Dec 14 2020
Journal Name
The Fourth International Conference Of Linguistic Studies
A pragmatic study of refusals among Iraqi EFL learners
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The speech act of refusals has been studied widely either alone or in relation to such areas as apology, requests, promotion, and invitation. The present study aims to investigate the strategies employed by Iraqi females in refusing marriage proposals. It attempts to explore their preferences to respond directly or indirectly in relation to their ages and educational background of the parents. The sample of the study consists of 25 participants; they are learners of English as a foreign language (EFL) at the College of Education for Women/ University of Baghdad. The data are collected by using a discourse completion task (DCT) followed by a follow up interview. The researchers used a Google form shared via emails to get responses from the p

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Publication Date
Tue Dec 01 2015
Journal Name
International Journal Of Current Microbiology And Applied Sciences
Expression Analysis of Salivary Microrna-31 in Oral Cancer Patients
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Oral carcinoma is the 6th most common cancer in the world. MicroRNAs are small non-coding single stranded RNAs. They have been shown to be capable of altering mRNA expression; thus some are oncogenic or tumor suppressive in nature. The salivary microRNA-31 has been proposed as a sensitive marker for oral malignancy since it was abundant in saliva more than in plasma. A total of 55 whole saliva samples were collected from 35 cases diagnosed with OC their ages and gender matched with 20 healthy subjects. TaqManq RT-PCR was performed for RNA samples. Mean age was 52.23+13.73 years in cases (range:17-70 years) with male predominance represented 69%. Risk of smoking and alcoholism was highly significant. The median fold change of miR-31 was sign

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Publication Date
Sun Jan 01 2012
Journal Name
The Journal Of Arts Faculty Of Baghdad University
Genre Analysis of Iraqi EFL Graduates’ Dissertation Acknowledgements
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Publication Date
Sun Jun 04 2017
Journal Name
Baghdad Science Journal
Detection of zpx gene of Cronobacter sakazakii isolated from Clinical samples for Iraqi children under Two Years
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The study included 200 samples were collected from children under two years included (50 samples from each of Cerebrospinal fluid, Blood, Stool and Urine) from, (Central Children Hospital and Children's Protections Educational Hospital) The Iraqi Ministry of Health, the Department of Health Baghdad .the period from the first of 2015 September to the first of December 2015, Were obtained isolates bacterial subjected to the cultural, microscopic and biochemical examination and diagnosed to the species by using vitek2 system .The results showed there were contamination in 6.5% of clinical samples. The diagnosed colonies which gave pink color on the MacConkey agar, golden yellow color on the Trypton Soy agar and green color on t

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Publication Date
Sun Jun 12 2022
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Adherence to Different Treatment Modalities among Patients on Maintenance Hemodialysis
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        End Stage Renal Disease is a well-known global public health problem. Maintenance hemodialysis is considered a life-saving treatment for patients with such disease. This treatment method that requires patients to be adherent to hemodialysis attendance, dietary and fluid recommendations as well as adherence to prescribed medications to ensure success. The aim of the current study was to assess adherence, perception, and counseling among hemodialysis patients to different modalities of treatment (fluid restriction, dietary recommendations, medications, and hemodialysis schedules). A cross-sectional study carried out on hemodialysis patients who attended to the dialysis centers at al- Karama teachi

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