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Molecular analysis of CFTR gene mutations among Iraqi cystic fibrosis patients
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 Jun 27 2021
Journal Name
Iraqi National Journal Of Nursing Specialties
Detection of Depression among Nurses Providing Care for Patients with COVID-19 at Baqubah Teaching Hospital

Objectives: The present study aims at detecting the depression among nurses who provide care for infected patients with corona virus phenomenon and to find out relationships between the depression and their demographic characteristics of age, gender, marital status, type of family, education, and years of experience of nurses in heath institutions, infection by corona virus, and their participation in training courses.
Methodology: A descriptive study is established for a period from October 10th, 2020 to April 15th, 2021. The study is conducted on a purposive (non-probability) sample of (100) nurse who are providing care for patients with COVID-19 and they are selected from the isolation wards. The instrument of the study is develope

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Publication Date
Sun Dec 01 2024
Journal Name
The Medical Journal Of Tikrit University
ChemiluminescenceMicroparticle Immunoassay in the Diagnosis of Hepatitis C Virus among Patients on Hemodialysis: A Comparative Study

Browse Iraqi academic journals and research papers

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Publication Date
Sun Jan 01 2023
Journal Name
2nd International Conference On Mathematical Techniques And Applications: Icmta2021
Review of clustering for gene expression data

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Publication Date
Sun Apr 30 2023
Journal Name
Iraqi Journal Of Science
The Correlation between CMV Infection and Hypertension in Iraqi Patients

In order to study the correlation between CMV infection and increase in blood pressure among Iraqi patients, 201 blood samples were collected including; 88 male, 113 female hypertensive patients and 40 control samples. Patients sera were grouped into patients who are under medication (T), and patients who do not take any treat-ment for hypertension(NT). Samples were tested for CMV-IgM/IgG by ELISA, ren-in enzyme and interleukin-6(IL-6) levels were determined by ELISA too. The opti-cal density readings difference for CMV-IgG were significant between (T) and (NT) groups as well as when each group compared to control, level of renin enzyme showed significant difference between patients group(T and NT) and between each group compared to the

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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

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
Sun Jun 30 2013
Journal Name
Al-kindy College Medical Journal
HLA Typing in Iraqi Patients with Obesity and Primary Osteoarthritis.

Background: Osteoarthritis (OA) is a degenerative joint disease. It is one of the major causes of disability in developed and developing countries. Human leukocyte antigen (HLA) as part of immune system has a role in the disease process.Objectives: To investigate whether there is an association between HLA class II-DRB and OA.Methods: A case control study with 26 patients with osteoarthritis and 22 apparently healthy obese control persons matching in ethnicity were enrolled in this study during the period between October 2012 till March 2013. Direct interview was done with each patient and HLA typing was done by molecular method using Sequence Specific Primer (PCR-SSP) method using One Lambda Kit-USA. Results: The results showed that fem

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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

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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Publication Date
Fri Jun 24 2022
Journal Name
Iraqi Journal Of Science
Molecular Characterization Aminoglycosids Resistance Pseudomonas aeruginosa

Resistance to aminoglycosids is a great problem to therapeutics. Aminoglycoside acetyltransferase producing Pseudomonas aeruginosa have been reported to be important cause of nosocomial infections. The purpose of this study was to determine the occurrence of aminoglycoside acetyltransferase. A total of 200 clinical and environmental samples were collected over period of five months. The P. aeruginosa isolates were confirm their identification, antibiotic susceptibility profile according to vitek2 compact system. The isolates were subjected to polymerase chain reaction (PCR) assays with specific primers for aac (6')-I, aac (6')-Ib, aac (3')-I . Only 32 (16.%) P. aeruginosa isolates were recovered from the samples. in present investigation

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Publication Date
Fri Dec 08 2023
Journal Name
Iraqi Journal Of Science
Sequence Variation and Phylogenetic Relationships Among Ten Iraqi Rice Varieties Using RM171 Marker

In the present study rice microsatellite marker (RM 171) was used to evaluate the genetic diversity and determining cultivar identity among ten rice varieties (oryza sativa L.) (Seven local and three commercial varieties). PCR technique was performed using two specific primers. The result showed presence of a band (305bp) DNA sequencing was done to PCR product to detect sequence variation between the ten rice varieties. In order to detect the relationship among all varieties, alignment of RM171 marker sequence was carried out for each variety. Amber and Daawat varieties showed the highest similarity with 98% identity, while the difference (2%) consists of two gaps and two transition mutations (T/C) and (C/T). Furthermore, Amber was align

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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)
Knowledge, Attitudes and Barriers Towards Breast Cancer Health Education Among Iraqi Community Pharmacists

With the increasing prevalence of breast cancer among female internationally, occupies about 25% of all cases of cancer, with a measured 1.57 million up to date cases in 2012. Breast cancer has turn a most warning to health of female in Iraq, where it is the major cause of death among women after cardiovascular diseases, with a mortality rate of 23% related cancer. Recently there is a crucial requirement to include community pharmacists in health elevation activities to support awareness and early diagnosis of cancer, specially breast cancer. The aim of this study is to assess knowledge, attitude and perceived barriers amongst Iraqi community pharmacists towards health promotion of breast cancer. This study is cross sectional research. A

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