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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
Mon Mar 13 2017
Journal Name
Journal Of Baghdad College Of Dentistry
White Spot Lesions Among Patients Treated With Fixed Orthodontic Appliance at Different Time Intervals
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ABSTRACT Background:- White spot lesions are common esthetic problem that compromise the success of orthodontic treatment. This study aimed to assess white spot lesions in patients with fixed orthodontic appliance at different time intervals. Materials & Methods:- Thirty two patients (24 females and 8 males) were included in this study and they underwent clinical examination for white spot lesions using enamel decalcification index at four time intervals: (2-3 weeks after appliance insertion, 2, 4 and 6 months). Results:- The patients were free of white spot lesions at the appliance insertion visit. The mean of white spot lesions was 2.22 which were increased significantly during six months to reach 24.59 at the end of study. There was a si

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Publication Date
Wed Jan 30 2013
Journal Name
Al-kindy College Medical Journal
Electrocardiographic changes among beta-thalassemic major patients in ibn al-baladi thalassemia center-Baghdad
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Background :Thalassemia is an autosomal
disease of the haemoglobin. Two types of
thalassemia are recognized: thalassemia major
and thalassemia intermedia.
The most serious cardiac complication in
thalassemia major is due to multiple blood
transfusions rather than the disease itself, which
is due to iron overload.
Cardiomyopathy is the most common cardiac
defect that occurs with iron overload. Pricarditis,
congestive heart failure and arrhythmias are due
to hemosidrosis and chronic aneamia.
Aim of the study: to demonstrate the prevalence
and types of electrocardiographic changes among
thalassemic patients with aged over ten years old.

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Publication Date
Fri Mar 31 2017
Journal Name
Iraqi Journal Of Biotechnology
Reliable Reference Gene for Normalization of RT- qPCR Data in Human Cancer Cell Lines
Subjected to Gene Knockdown
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Quantitative real-time Polymerase Chain Reaction (RT-qPCR) has become a valuable molecular technique in biomedical research. The selection of suitable endogenous reference genes is necessary for normalization of target gene expression in RT-qPCR experiments. The aim of this study was to determine the suitability of each 18S rRNA and ACTB as internal control genes for normalization of RT-qPCR data in some human cell lines transfected with small interfering RNA (siRNA). Four cancer cell lines including MCF-7, T47D, MDA-MB-231 and Hela cells along with HEK293 representing an embryonic cell line were depleted of E2F6 using siRNA specific for E2F6 compared to negative control cells, which were transfected with siRNA not specific for any gene. Us

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Publication Date
Sat Nov 30 2024
Journal Name
Iraqi Journal Of Science
Evaluation of Syndecan-1 Expression in Iraqi Patients with Papillary Thyroid Carcinoma
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Papillary thyroid carcinoma (PTC) represents the most prevalent kind of thyroid gland cancer, making up around 80% of all occurrences of thyroid cancer. Evidence shows that Syndecan-1 (SDC-1) expression is lost in a number of benign and malignant epithelial neoplasms, although its expression profile in thyroid gland neoplasms is yet unknown. Therefore, the aim of this study was to assess SDC-1 expression in papillary thyroid carcinoma patients, as well as the relationship between age and gender and SDC-1 expression. To undertake a detailed investigation of SDC-1 in normal and malignant tissues, tissue sections were used to examine SDC-1 expression in 70 tissue samples, 50 distinct PTC (6 males and 44 females) and 20 normal tissue ty

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Publication Date
Wed Aug 02 2023
Journal Name
Bionatura
Comparative Study of IgG Between Iraqi Covid-19 Patients and Vaccinated Individuals
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COVID-19 is a coronavirus disease caused by the severe acute respiratory syndrome. According to the World Health Organization (WHO), coronavirus-2 (SARS-CoV-2) was responsible for 87,747,940 recorded infections and 1,891,352 confirmed deaths as of January 9, 2021. Antibodies that target the Sprotein are efficient in neutralizing the virus. Methodology: 180 samples were collected from clinical sources (Blood and Nasopharyngeal swabs) and from different ages and genders at diverse hospitals in Baghdad / IRAQ between November 5, 2021, to January 20, 2022. All samples were confirmed infected with COVID-19 disease by RT-PCR technique. Haematology analysis and blood group were done for all samples, and Enzyme-Linked Immunosorbent Assay used an Ig

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Publication Date
Tue Jan 01 2019
Journal Name
Indian Journal Of Forensic Medicine &amp; Toxicology
Immunohistochemical Assessment of SOX2 Expression in Iraqi Patients with Gastric Carcinoma (GC)
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Publication Date
Wed Jul 05 2017
Journal Name
International Journal Of Science And Research (ijsr)
Hyperglycosylated hCG in a Group of Iraqi Patients with Gestational Trophoblastic Disease
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Background : Hyperglycosylated hCG a newly discovered variant of hCG which can be used as a predictor of invasion of trophoblastic cells in patient with gestational trophoblastic disease. Objectives : To measure hyperglycosylated human chorionic gonadotrophin and to assess how far it can be used as predictor of invasion in invasive mole and choriocarcinoma. Study design control study. Setting: : Case Gynecological department in Baghdad Teaching Hospital from January 2016 to January 2017. Patient and Methods : 60 women were enrolled in this study 30 of them were with gestational trophoblastic disease (no.= 30 ) the remainder were normal pregnancy (no. =30) , hCG –H level was measured in both groups. Results : Mean serum hCG-H le

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Publication Date
Thu Sep 15 2022
Journal Name
Bionatura
Assessment of lipid profile with HbA1c in type 2 diabetic Iraqi patients
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Insulin-induced hyperglycemia is the hallmark of diabetes mellitus (DM), including various metabolic disorders. Diabetic people are more likely to develop dyslipidemia, hypertension, and obesity. Type 2 diabetes ‎(T2DM), the most common illness, is generally asymptomatic in its early stages and can go misdiagnosed for years. Diabetes screening may be beneficial in some cases since early identification and treatment can lessen the burden of diabetes and its consequences.‎ This study aimed to find the relationship between Glycated hemoglobin (HbA1c) ‎and lipid profile components in T2DM‎ patients. This descriptive-analytical and cross-sectional study was performed on the control group and T2DM patients in ‎Medical City in Ba

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Publication Date
Thu Sep 15 2022
Journal Name
Bionatura
Assessment of lipid profile with HbA1c in type 2 diabetic Iraqi patients
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Insulin-induced hyperglycemia is the hallmark of diabetes mellitus (DM), including various metabolic disorders. Diabetic people are more likely to develop dyslipidemia, hypertension, and obesity. Type 2 diabetes ‎(T2DM), the most common illness, is generally asymptomatic in its early stages and can go misdiagnosed for years. Diabetes screening may be beneficial in some cases since early identification and treatment can lessen the burden of diabetes and its consequences.‎ This study aimed to find the relationship between Glycated hemoglobin (HbA1c) ‎and lipid profile components in T2DM‎ patients. This descriptive-analytical and cross-sectional study was performed on the control group and T2DM patients in ‎Medical City in Baghdad be

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Publication Date
Tue Jan 01 2019
Journal Name
Indian Journal Of Forensic Medicine &amp; Toxicology
Immunohistochemical Assessment of SOX2 Expression in Iraqi Patients with Gastric Carcinoma (GC)
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Objective: To evaluate whether the SOX2 protein could be used as a predictor in patients with GC and to assessment the correlation between the IHC expression of the SOX2 protein and the various clinic pathological Parameters as age, sex, histopathological subtypes, grade and stage of the tumor by immune-histochemical Technique. This is a retrospective study conducted on 60 randomly selected patients (30) normal versus (30) GC, at the pathology department of the Gastroenterology and Hepatology Teaching Hospital & some private hospitals. It were collected and diagnosed during the period between from 2014 to 2018. From each block were stained with H&E and IHC stained for SOX2. The Statistical analysis was done using SPSS system, and the differ

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