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Molecular Analysis of CYP21A2 Gene Mutations among Iraqi Patients with Congenital Adrenal Hyperplasia
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Congenital adrenal hyperplasia is a group of autosomal recessive disorders. The most frequent one is 21-hydroxylase deficiency. Analyzing CYP21A2 gene mutations was so far not reported in Iraq. This work aims to analyze the spectrum and frequency of CYP21A2 mutations among Iraqi CAH patients. Sixty-two children were recruited from the Pediatric Endocrine Consultation Clinic, Children Welfare Teaching Hospital, Baghdad, Iraq, from September 2014 till June 2015. Their ages ranged between one day and 15 years. They presented with salt wasting, simple virilization, or pseudoprecocious puberty. Cytogenetic study was performed for cases with ambiguous genitalia. Molecular analysis of CYP21A2 gene was done using the CAH StripAssay (ViennaLab Diagnostics) for detection of 11 point mutations and >50% of large gene deletions/conversions. Mutations were found in 42 (67.7%) patients; 31 (50%) patients were homozygotes, 9 (14.5%) were heterozygotes, and 2 (3.2%) were compound heterozygotes with 3 mutations, while 20 (32.3%) patients had none of the tested mutations. The most frequently detected mutations were large gene deletions/conversions found in 12 (19.4%) patients, followed by I2Splice and Q318X in 8 (12.9%) patients each, I172N in 5 (8.1%) patients, and V281L in 4 (6.5%) patients. Del 8 bp, P453S, and R483P were each found in one (1.6%) and complex alleles were found in 2 (3.2%). Four point mutations (P30L, Cluster E6, L307 frameshift, and R356W) were not identified in any patient. In conclusion, gene deletions/conversions and 7 point mutations were recorded in varying proportions, the former being the commonest, generally similar to what was reported in regional countries.

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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
Sun Dec 15 2019
Journal Name
Journal Of Ideas In Health
Evaluation of self-medication among Iraqi pharmacy students
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Background: Practicing self-medication is common and a worrisome issue because of irrational drug use. This study aimed to evaluate self-medication knowledge and views among the final year pharmacy students in Iraq.  Methods: A cross-sectional descriptive study was conducted from December 2018 to January 2019. A pre-validated and self-administered questionnaire was recruited to survey pharmacy students at the University of Baghdad and Al-Rafedain University College. The Statistical Package for the Social Sciences version 20 (SPSS v. 20) software used to save and analyze the data. Results expressed as numbers and percentages. Results:  A total of 344 students (response rate: 94.24%) with a mean age of 22.10 years includ

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Publication Date
Wed Dec 14 2016
Journal Name
Journal Of Baghdad College Of Dentistry
Prevalence of Dental Anomalies among Iraqi Dental Students
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Background: Dental anomalies are abnormal tooth condition occurs due to certain genes or environmental factor disturb tooth development during morphodifferentiation stages, affecting group of teeth or entire dentition. The aim of the study is to evaluate the frequency of occurrence of dental anomalies among dental student. Materials and Methods: Three hundred dental students with age ranged (18-23 years) were examined clinically and radiographically searching for dental anomalies in shape, number and position. Results: Only 25 students (8.3 %) from the total sample (300) had dental anomalies, female form the higher percentage of anomalies (about 68%) compared to male (32%). The age group (22 years) which was the larger group had a higher

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Publication Date
Thu May 28 2020
Journal Name
Iraqi Journal Of Science
Impact of EBV on Multiple in a Sample of Iraqi Females: Immunological and Molecular Study
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This study was designed to highlight the role of Epstein Barr viruses (EBV) as a possible causative effect in multiple sclerosis (MS) through testing the viral load along with both biochemical and immunological parameters in female MS patients. We also aimed at finding the effects of different types of treatment line on the various study aspects. The results of the enzyme-linked immunosorbent assay (ELISA) revealed first an increased level of EBV EBNA1IgG IL-17A (96.13±27.60 pg/ml) in sera of female MS patients (0.05±0.01 U/ml, n=50) compared with the control group (n=40). We confirmed this result using real-time polymerase chain reaction (RT-PCR) which also showed a significantly higher EBV load in MS patients (22.61±12.72 copi

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Publication Date
Sun Sep 07 2014
Journal Name
Baghdad Science Journal
Study ABO / Rh Systems with IL-18 & IL-33 in Iraqi Patients with Diabetes Mellitus Type II
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Type 2 diabetes mellitus (DM) is a group of metabolic disorder disease. The inflammatory markers act as a new risk factor for development of type 2 diabetes with a possible association with ABO/Rh blood groups. Human ABO genes are located on chromosome 9q34.1-q34.2. The aim of this study was to investigate the possible association between inflammatory markers, interleukin (IL) -18 and IL-33 in type 2DM and ABO blood groups. Sixty four patients with newly diagnosed type2 DM and control group consist of twenty healthy Iraqi individual. Laboratory test were include ABO blood groups using standard serological procedures and detection IL-18 and IL-33 in serum by ELISA kits. The Present data showed a significant increase i

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Publication Date
Fri Sep 01 2023
Journal Name
Asian Pacific Journal Of Cancer Prevention
Development of a T-ARMS-PCR Assay for Detecting Genetic Polymorphism in the Catalase (rs7943316) Gene in the Iraqi Population with Breast Cancer
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Publication Date
Tue Feb 28 2023
Journal Name
Iraqi Journal Of Science
Study the Association of Uromodulin Gene rs13332878 with Chronic Kidney Disease
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       Uromodulin is the most abundant protein ordinary excreted in urine which could be used as a biomarker to diagnose kidney diseases.  However, evidence suggests that it regulates salt transport, protects against urinary tract infection and kidney stones, and has a role in kidney damage and innate immunity. This study aimed to understand the association of uromodulin gene rs13332878 with  chronic kidney disease. More than 100 people were selected for the study and the samples collected from the under study subjects were divided into two groups. 70 chosen subjects were under the dialysis with kidney failure, and  aged between 18-88 years. The second group included 30 samples from healthy individuals, used as control. One of t

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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
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
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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