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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
Sat Mar 02 2019
Journal Name
World Heart Journal
Assessment of the Left Ventricular Mass (LVM) among Patients with Diabetes in Relation to Age Using Doppler Echocardiography
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Background: Diabetes mellitus a major factor that has adverse effects on the vascular system and the heart. It causes an increase in cardiac muscle thickness, resulting in decreased compliance and increased peripheral arterial stiffness. This study aims to assess the left ventricular mass (LVM) and left ventricular hemodynamic changes in diabetic patients measured by Doppler echocardiography. Patients and Methods: The study included 50 diabetic patients ranging in age between 25 and 80 years, (mean age: 54.1 ± 15.10, 19 males, 31 females) and 50 healthy subjects, aged 25 to 80 years (mean age: 48.52 ± 14.45, 11 males, 39 females). Doppler echocardiography was used to assess left ventricular function. The measurements included

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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)
Assessing Quality of Life Among Patients with Diabetes Mellitus, Hypertension or Both Diseases in Al-Najaf Province /Iraq
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this study deals with effect of diabetes and hypertension on quality of life

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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
Mon Feb 15 2021
Journal Name
Nursing Open
Recitation of quran and music to reduce chemotherapy‐induced anxiety among adult patients with cancer: A clinical trial
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Abstract<sec><title>Aim

The aim of this study was to assess the effectiveness of listening to music or Quran in reducing cancer patients’ anxiety before chemotherapy administration. Reducing anxiety in people with cancer, prior to chemotherapy administration, is a crucial goal in nursing care.

Design

An experimental comparative study was conducted.

Methods

A simple randomization sampling method was applied. Two hundred thirty‐eight people with cancer who underwent chemotherapy were participated. They are assigned as Quran, music and control groups.

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Publication Date
Fri Dec 30 2016
Journal Name
Al-kindy College Medical Journal
Congenital Thrombasthenia In Children Welfare Teaching Hospital: A Descriptive Study
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Background: Thrombasthenia is an inherited genetic disorder affecting platelets, which is characterized by spontaneous muco-cutaneous bleeding and abnormally prolonged bleeding in response to injury or trauma. Objectives: The aim of this study was to assess the diagnosis and treatment of thrombasthenia in Children Welfare Teaching Hospital. Type of the study: A cross-sectional study. Methods: This descriptive study was performed on 66 patients with thrombasthenia from the first of October 2013 till the first of July 2015.The diagnosis of the disease was done by a wide spectrum of characteristics including family history, clinical manifestations, laboratory tests.. Results: The common manifestations of the disease at time of diagnosis wer

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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
Sat Jun 15 2019
Journal Name
Journal Of Baghdad College Of Dentistry
The accuracy of cone-beam computed tomography in the evaluation of boney support of teeth among patients with a unilateral cleft of lip and palate among IraqiPopulation
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Background: To evaluate the bony supports of the teeth adjacent to the area of cleft in patient with unilateral cleft lip and palate and to compare these measurements with the measurements of the same teeth in non-cleft side by using CBCT. Materials and methods: The CBCT scans of 30 patients having cleft lip( unilateral) and palate(unilateral), were analyzed and the measurements of the alveolar bony support for teeth that are adjacent to the cleft area were measured with those teeth located on opposite side (non- clef) side. For each tooth, the measurements will taken for the distance between the( cementoenamel junction) (CEJ) and the bony crest (AC) at the( buccal area) was measured and the thickness of the buccal plate At zero, one, tw

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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
Mon Dec 24 2018
Journal Name
Bulletin Of The Iraq Natural History Museum (p-issn: 1017-8678 , E-issn: 2311-9799)
MOLECULAR IDENTIFICATION AND PHYLOGENETIC-TREE ANALYSIS OF MONIEZIA SPECIES FROM SHEEP IN AL-DIWANIYAH CITY
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    The present study was performed to detect the molecular and the phylogenetic identification of species that belonging to the genus of Moniezia Blanchard, 1891 which affected intestines of sheep in Al-Diwaniyah city, Iraq; fifty intestine samples were sought for the infestation of Moniezia spp. from the city slaughterhouse from 1 October to 30 November 2017, this tapeworm was found to infest the intestines of 13 sheep.

 

    For morphological identify the genus of this tapeworm, eggs from one gravid proglottid of the thirteen worms were examined, polymerase chain reaction (PCR) and the PCR-product-based sequencing were applied on 4 Moniezia tapeworms targeti

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Publication Date
Sun Jul 30 2023
Journal Name
Al-rafidain Journal Of Medical Sciences
Correlation of Kidney Injury Molecule-1 and Nephrin Levels in Iraqi Patients with Diabetic Nephropathy
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Diabetic nephropathy is characterized by persistent microalbuminuria and metabolic changes that decline renal functions. Researchers have been prompted to explore new biomarkers such as KIM-1 and nephrin that may enhance the identification of disease. Objective: To Evaluate biomarker levels of kidney injury molculre-1 (KIM-1) concentration and nephrin as early and sensitive markers of nephropathy in type 2 diabetic patients. Method: One hundred T2DM patients were included in a cross-sectional study at the specialized center for endocrinology and diabetes, Baghdad. The first group includes 50 diabetic nephropathy (DN) patients, and the second group includes 50 T2DM patients without DN. Biochemical and clinical parameters were reported for pa

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