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Clinical and Genetic Varieties of Gaucher Disease in Iraqi Children
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Abstract<p>Gaucher disease (GD), which is due to a deficiency in the lysosomal enzyme β-glucocerebrosidase, is a rare genetic disorder. It is characterized by a wide variety of clinical manifestations and severity of symptoms, making it difficult to manage. A cross-sectional hospital-based genetic study was undertaken with 32 pediatric patients. We recruited 21 males and 11 females diagnosed with GD, with a male-to-female ratio of 1.91:1. The mean age of the study population was 8.79 ± 4.37 years with an age range from 8 months to 17 years. We included patients on clinical evaluation from 2011 to 2019. An enzyme assay test was used to measure β-glucosidase enzyme activity in leukocytes and the GBA gene study was performed by polymerase chain reaction technique. We found GD type 1 in 27 (84.37%) participants, GD type 3 in five (15.63%) participants, while none classified as GD type 2. The dominant mutation in GD 1 was N370S in 81.5%, of which two-thirds were homozygous. The second common mutation in this type of disease (L444P) was present in nine cases (40.9%), two of whom were homozygous (9.9%). Meanwhile, R463C was present in six cases (27.27%), of whom one was homozygous. In GD 3, the dominant mutation was L444P as seen in 80% of the patients followed by N370S and R463C in 20%. This study shows that the most common mutant allele in this study was N370S, followed by L444P. Further large-scale studies with more advanced designs are recommended to explore the sequences of GBA genes.</p>
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Publication Date
Mon Jan 01 2018
Journal Name
Journal Of Cosmetics, Dermatological Sciences And Applications
Pityriasis Alba versus Vitiligo Clinical and Histopathological Study
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Publication Date
Sat Sep 30 2023
Journal Name
Romanian Journal Of Rheumatology
Association between genetic polymorphism in tumor necrosis factor-alpha gene and adverse effects of etanercept in rheumatoid arthritis patients
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Background. Gene polymorphisms affect etanercept’s pharmacokinetics, pharmacodynamics, and side effects. This effect is evidenced by the extensive genetic variation in the drug’s targets. Objectives. This study aims to find the association between different genotypes of the promoter region of the TNF-α gene at -308G/A(rs1800629), -857C/T(rs1799724), -863 C/A(rs1800630), -1031 T/C (rs1799964), -806 C/T (rs4248158) and -376 G/A (rs1800750) and the side effects of ETN that occurred to Iraqi RA patients. Method. The trial included patients with rheumatoid arthritis who had been using ETN for at least six months. The participants were from the Baghdad Teaching Hospital Rheumatology Unit. The PCR was sequenced to determine the polymo

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Publication Date
Mon Jun 30 2014
Journal Name
Al-kindy College Medical Journal
The Role of Interleukine-33 in Inflammatory Bowel Disease
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The inflammatory bowel disease (IBD), Crohn’s disease (CD) and ulcerative colitis (UC) are heterogenous chronic inflammatory disorders of the gastrointestinal tract. The most widely accepted etiopathogenic hypothesis for these disorders suggests an immune mediated process.
Objective: This study was performed to evaluate the role of interleukine-33 in pathogenesis of inflammatory bowel disease and to correlate their levels with the disease activity and/or severity.
Methods: Fifty five subjects with inflammatory bowel disease (41 ulcerative colitis patients and 14 Crohn’s disease patients) their ages range from 16-65 years and 25 apparently healthy volunteers their ages and sexes were matched with the patients were participated i

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Publication Date
Sun Jan 30 2022
Journal Name
Gsc Advanced Research And Reviews
Review of Coronavirus disease- 2019 (COVID-19) in Iraq
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The severe acute respiratory syndrome coronavirus 2 (SARS-CoV 2) or 2019 novel coronavirus (2019-nCoV) is quickly spreading to the rest of the world, from its origin in Wuhan, Hubei Province, China. And becoming a global pandemic that affects the world's most powerful countries. The goal of this review is to assist scientists, researchers, and others in responding to the current Coronavirus disease (covid-19) is a worldwide public health contingency state. This review discusses current evidence based on recently published studies which is related to the origin of the virus, epidemiology, transmission, diagnosis, treatment, and all studies in Iraq for the effect of covid-19 diseases, as well as provide a reference for future research

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Publication Date
Tue Dec 13 2005
Journal Name
Iraqi Journal Of Laser
Clinical Observation and Performance of High Power Diode Laser in the Treatment of Oral Lesions
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In this work, oral lesions belong to 17 patients, 7 males and 10 females. Their ages range between 15 and 45 years. Follow up was conducted after one day, 7 days, 14 days, one month, and finally 3 months postoperatively. The study lasted for 1.5 year. Surgical diode laser with wavelength of 810 ± 20 nm, with two power levels of 10 and 15 W were used in contact and in non-contact mode via optical fiber. The postoperative outcome revealed; greater haemostatic capability, dry, sealed wound and noticeable lack in pain sensation

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Publication Date
Sun Dec 29 2019
Journal Name
Iraqi Journal Of Science
Genetic Polymorphisms rs643627 in Serotonin Receptor Gene (5-HTR2A) with Schizophrenia
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Schizophrenia(SCZ) is oneof the most destructive and complicated chronic diseases of the human nervous system. Serotonin receptors have been involved in the pathophysiology of psychiatric disorders including schizophrenia. Fortyschizophrenia subjects (14females and 26 males) with an age range of 23– 57 years were enrolled, in addition to twenty healthy control subjects (10female and 10 male) with an age range of 19-44 years.

This study aimed to evaluate the frequency of one single nucleotide polymorphism (SNP), namelyrs643627 in HTR2Agene,inIraqi patients with schizophrenia in comparison with controls, along with the association between this SNP and the incidence of schizophrenia.

The genetic variantrs6436

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Publication Date
Tue Aug 31 2021
Journal Name
Iraqi Journal Of Science
Roles of IL-17A and IL-23 in the Pathogenesis of Ulcerative Colitis and Crohn’s Disease
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     Inflammatory bowel disease (IBD) is a chronic inflammatory disorder,  the etiology and pathogenesis of which have been suggested to be influenced by cytokines. Two main clinical types of IBD are recognized, namely ulcerative colitis (UC) and Crohn's disease (CD). The present study examined serum levels of two cytokines (IL-17A and IL-23) in 60 IBD patients (30 UC and 30 CD) and 30 healthy controls. The levels were correlated with age, gender, cigarette-smoking status, disease duration, family history, disease extension, symptoms, extra-intestinal manifestations, and medication. The results depicted that IL-17A level was significantly higher in UC and CD patients compared to control (45.2 ± 23.3 and 47.5 ±

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Publication Date
Wed Apr 10 2019
Journal Name
Engineering, Technology &amp; Applied Science Research
Content Based Image Clustering Technique Using Statistical Features and Genetic Algorithm
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Text based-image clustering (TBIC) is an insufficient approach for clustering related web images. It is a challenging task to abstract the visual features of images with the support of textual information in a database. In content-based image clustering (CBIC), image data are clustered on the foundation of specific features like texture, colors, boundaries, shapes. In this paper, an effective CBIC) technique is presented, which uses texture and statistical features of the images. The statistical features or moments of colors (mean, skewness, standard deviation, kurtosis, and variance) are extracted from the images. These features are collected in a one dimension array, and then genetic algorithm (GA) is applied for image clustering.

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Publication Date
Mon Sep 03 2018
Journal Name
Al-academy
Simplicity and complexity in the visual layout of the designs Children magazine covers
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The magazine covers the subjects of (simplicity and complexity in the visual layout of the designs of magazine coverings of children) Chapter I The problem and importance of the goal and limits of research and addition to Terminology. In the second chapter the theoretical framework in which the first topic the role of simplicity and complexity in the design and the second section Visual design and design relations and the third research design in magazine covers and the third chapter includes the methodology of research and analysis and the results and conclusions and sources and the most important result of the research is (simplicity and complexity of design, Continuity and vitality and attract the attention of the receiver through the

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Publication Date
Tue Jan 01 2019
Journal Name
Indian Journal Of Public Health Research & Development
Body image and Physical Perception of children with Precocious Puberty in Baghdad city
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