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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
Wed Mar 10 2021
Journal Name
Baghdad Science Journal
incidence of vulvovaginal candidiasis among iraqi women
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this worl was carried oit on 50 woman they were attended to the gynecological out patinetand non albicans vared among age group

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Publication Date
Thu Jun 01 2023
Journal Name
Neurology Asia
Integrin alpha-4 gene polymorphism in relation to natalizumab response in multiple sclerosis patients
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Objectives: The aim of this study was to assess the possible the association between +3061 (G>A, rs1143676) missense mutation in exon 24 of the integrin α-4 subunit (ITGA-4) gene and the response to natalizumab in a sample of Iraqi multiple sclerosis patients. Methods: A sample of 59 patients with multiple sclerosis (16 males and 43 females; mean age of 32 years; age range of 15 to 52 years) receiving natalizumab for at least 12 consecutive months were involved in the study between March and August/ 2022. The sample was categorized into two groups according to their response to natalizumab treatment (responders and non-responders). Polymerase chain reaction and Sanger’s sequencing for the extracted deoxyribonucleic acid was pe

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Publication Date
Mon Jun 03 2024
Journal Name
Journal Of Pioneering Medical Science
Prevalence of Diabetic Hyperglycemia Among Patients With Rheumatoid Arthritis
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Introduction: Rheumatoid arthritis (RA) is one of the most prevalent systemic inflammatory diseases worldwide. Cardiac complications present the most common mortality cause among RA patients. One of the most important comorbid conditions with RA is diabetic hyperglycemia mainly type 2 diabetes mellitus (T2DM). Aim of the study: The present study was conducted to assess prevalence of T2DM among patients diagnosed with RA from Iraq. Methodology: We included a randomly selected 100 rheumatoid arthritis. All included patients were subjected to anthropometric measurements, diabetic profile assessment and ESR, CRP and rheumatoid factor measurement. Results: Among the included RA patients, 28 patients were diagnosed with new-onset DM. Our

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Publication Date
Sat Feb 02 2019
Journal Name
Journal Of The College Of Education For Women
Linguistic Analysis as Mean of Soliciting Patients concerns
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Publication Date
Sun Aug 01 2021
Journal Name
International Journal Of Agricultural And Statistical Sciences
STATISTICAL ANALYSIS OF PATIENTS INFECTED WITHCORONAVIRUS USING MANOVA
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Statistics has an important role in studying the characteristics of diverse societies. By using statistical methods, the researcher can make appropriate decisions to reject or accept statistical hypotheses. In this paper, the statistical analysis of the data of variables related to patients infected with the Coronavirus was conducted through the method of multivariate analysis of variance (MANOVA) and the statement of the effect of these variables.

Publication Date
Thu Feb 16 2023
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Cost-effectiveness Analysis of Reference Infliximab (Remicade) Compared to its Biosimilar (Remsima) in Iraqi Patients with Rheumatoid Arthritis (Conference Paper )#
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The study objective was to conduct Pharmacoeconomics study (cost-effective analysis) between infliximab reference (Remicade) and its biosimilar (Remsima) in patients with rheumatoid arthritis (RA) in Iraqi hospitals.

This is a retrospective multicenter pharmacoeconomic analysis conducted at two large teaching governmental hospitals in Baghdad, Iraq which provided infliximab to patients with RA. Data were collected from patient’s medical records and face-to-face interviews with the patients from December 2021 to April 2022.

The study included 57 patients with rheumatoid arthritis (RA).  The patients were categorized into two groups according to the type of infliximab they received over 30 weeks: 27 patients received

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Publication Date
Mon Jun 26 2023
Journal Name
Journal Of Contemporary Medical Sciences
Molecular detection of mononucleotide biomarkers of microsatellite instability in sporadic colorectal carcinoma patients with clinicopathological correlation
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Objectives: To identify the frequency and types of microsatellite instability among a group of sporadic CRC patients and to correlate the findings with clinicopathological characteristics. Methods: During an 8-month period, all patients with sporadic CRC who attended to two teaching hospitals in Baghdad, Iraq were recruited to this cross-sectional study regardless of age, sex, ethnicity, or tumor characteristics. Demographic, clinical, and histopathological features were recorded. DNA was extracted from FFPE-blocks of the resected tumors and normal tissues. PCR amplification of five microsatellite mononucleotide repeat loci (BAT25, BAT26, NR-21, NR-24, and MONO-27) and 2 pentanucleotide repeat control markers (Penta C and Pent

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Publication Date
Mon Jan 01 2018
Journal Name
Research Journal Of Pharmacy And Technology
Impact of Human Cytomegalovirus Infection associated with the expressed protein of mutated <i>BRCA1</i> gene in breast tissues from a group of Iraqi Female Patients with Breast Carcinoma
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Publication Date
Sat Apr 30 2022
Journal Name
Pakistan Journal Of Medical And Health Sciences
Evaluation of Cytotoxic T-Lymphocyte Antigen 4 Polymorphism and Soluble Immune Checkpoint Level Among A Sample of Sars-Cov-2 Iraqi Patients
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Objective: To Evaluate the Roley of Cytotoxic T-Lymphocytek antigen 4 Polymorphism and soluble immune checkpoint level (PD-1,PDL-1 and CTLA-4 ) in SARS-Cov-2 patients. Methods: Fromt October 2020 to April 2021, the currentk study was conducted in Baghdad-Iraq. Ninety patients with Confirmatory SARS-Cov-2 by PCR were inclusion in the study, and they were seeking treatment at Medical City in Baghdad's Teaching Hospital (BTH). Patients with SARS-Cov-2 were divided into two groups: those with Sever SARS-Cov-2 symptom and those with mild - moderate SARS-Cov-2 symptoms (cross sectional study. Patients with another form of autoimmune illness, malignant, diabetes, under the age of 18 and pregnant women were excluded. Results: Data rega

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Publication Date
Thu Jun 15 2017
Journal Name
Journal Of Baghdad College Of Dentistry
Oral Health Status, Salivary MMP-8& Secretory Leukocyte Peptidase Inhibitor (SLPI) Among Uncontrolled Type-I Diabetes Mellitus In Iraqi Patients
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Background: diabetes is a metabolic disease characterized by hyperglycemia that results in deficiency or absence of insulin production. The dental caries and gingivitis/periodontitis are widespread chronic diseases in diabetes. The aim of the present study was determined the salivary matrix metalloproteinase (MMP-8), Secretory Leukocyte Peptidase Inhibitor (SLPI) and oral health status among uncontrolled diabetic group in comparison with healthy control group. Materials and Methods: The total sample composed of 90 adults aged (18-35) years. Divided into 60 uncontrolled diabetic patients (HbA1c >7%) and 30 healthy control group. Unstimulated saliva was collected from each subject with type-I DM, BMI, duration of diabetes, HbA1c%, DMFT, gingi

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