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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
Tue Sep 01 2020
Journal Name
Meta Gene
Genetic polymorphisms frequency of vitamin D receptor gene rs7975232 and rs731236 in Iraqi thalassemic patients and healthy controls compared to Arabian healthy populations
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Publication Date
Sun Dec 15 2019
Journal Name
Journal Of Baghdad College Of Dentistry
Association of a genetic variant (rs689466) of Cyclooxygenase-2 gene with chronic periodontitis in a sample of Iraqi population
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Background: periodontitis is a chronic inflammatory disease causing destruction of the tooth supporting structures, initiated by dental plaque and modified by environmental and genetic risk factors. Cyclooxygenase-2 (COX-2) enzyme is responsible for the production of prostaglandin E2, an important mediator in the chronic periodontitis (CP) pathogenesis. Polymorphisms in COX-2 gene have linked to CP in different populations. Aim: To study the association between Cyclooxygenase-2 single nucleotide polymorphism rs689466 (-1195A/G SNP) and chronic periodontitis in a sample of Iraqi population. Methods: One hundred Iraqi subjects divided into two groups: case group consisted of 70 CP patient (35 males and 35 females) with age range 30-55 year

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Publication Date
Mon Nov 23 2015
Journal Name
Sultan Qaboos University Medical Journal
Association of Higher Defensin β-4 Genomic Copy Numbers with Behçet’s Disease in Iraqi Patients
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Publication Date
Wed Apr 30 2014
Journal Name
Ibn Al-haitham Journal For Pure And Applied Sciences
Relationship Between Interleukin -33( IL-33) and C- Reactive Protein in Iraqi Women Patients with Celiac Disease
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Interleukin -33 is a new member of the IL-1 superfamily of cytokines that is expressed mainly by stromal cells.Its expression is upregulated following pro-inflammatory stimulation.Aim of the present study was to assess the serum IL-33 level and its relationship with inflammatory biomarker CRP in Iraqi females patients with celiac disease. Thirty five patients with celiac disease (CD) and thirty healthy individuals as control group were enrolled in this study,their age ranged (20-35) year.Anti-Gliadin IgA ,IgG and Anti-Tissue IgA ,IgG were estimated in all subjects as diagnostic parameters .ESR and CRP were assayed as inflammatory biomarkers. IL-33 was determined in patients and control groups.The results of the present study revealed a hig

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Publication Date
Mon Sep 01 2025
Journal Name
Journal Of Cancer Research Updates
Hematological Parameters in Liver Metastasis: A Comprehensive Clinical Evaluation for Early Detection in Iraqi Patients
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Background: Liver metastasis significantly complicates cancer prognosis, yet easily accessible markers for its early detection and monitoring remain crucial. This study aimed to comprehensively evaluate key hematological parameters as potential indicators for liver metastasis in Iraqi patients. Methods: We conducted a cross-sectional study comparing hematological profiles between 90 patients (presumably with liver metastasis) and 30 healthy controls. White Blood Cell (WBC) count, Lymphocyte percentage, Neutrophil percentage, and Neutrophil-to-Lymphocyte Ratio (NLR) were analyzed. Given non-normal data distributions (confirmed by the Shapiro-Wilk test), group comparisons were performed using the non-parametric Mann-Whitney U test.

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Publication Date
Fri Oct 02 2026
Journal Name
Journal Of Baghdad College Of Dentistry
Maximum bite force among a group of Iraqi children in relation to mandibular growth rotation
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Publication Date
Sat Feb 01 2020
Journal Name
Meta Gene
Interleukin-2 serum level, genetic polymorphism (rs2069763), anti-rubella antibody and risk of multiple sclerosis among Iraqi patients
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Background: Multiple sclerosis (MS) is a chronic neurodegenerative autoimmune disease mediated by autoreactive T cells against myelin-basic proteins. Cytokines are suggested to play a role in the etiopathogenesis of the disease. Among these cytokines is interleukin-2 (IL-2). Aim of the study: To investigate the association between IL2+166 G/T single nucleotide polymorphism (SNP: rs2069763) and MS in Iraqi patients. Serum level of IL-2 was also detected. Anti-rubella IgG antibody was further determined in the sera of patients. Patients and methods: Eighty MS patients (28 males and 52 females; age mean ± SD: 39.2 ± 16.1 years) and 80 healthy control matched patients for age (32.15 ± 16.13 years) and gender (28 males and 52 females) were en

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Publication Date
Wed Jan 01 2020
Journal Name
Plant Archives J.
Evaluation of the performance of introduced varieties of maize under different planting dates and environments
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Publication Date
Wed Oct 01 2014
Journal Name
Journal Of Economics And Administrative Sciences
Building standardized Growth Curves for Iraqi Children Under Five Years
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The growth curves of the children are the most commonly used tools to assess the general welfare of society. Particularity child being one of the pillars to develop society; through these tools, we can path a child's growth physiology. The Centile line is of the important tools to build these curves, which give an accurate interpretation of the information society, also respond with illustration variable age. To build standard growth curves for BMI, we use BMI as an index. LMSP method used for finding the Centile line which depends on four curves represents Median, Coefficient of Variation, Skews, and Kurtosis. These can be obtained by modeling four parameters as nonparametric Smoothing functions for the illustration variable. Ma

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Publication Date
Thu Nov 16 2023
Journal Name
Al-rafidain Journal Of Medical Sciences ( Issn 2789-3219 )
Evaluating TLR4 Gene Expression to Monitor Disease Progression in Iraqi Patients with Rheumatoid Arthritis
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Background: Toll-like receptors (TLRs) play a significant role in the activation of adaptive immunity and may have an essential role in the development of rheumatoid arthritis (RA). Objectives: To assess the gene expression of TLR4 in individuals with RA compared to healthy individuals. Methods: From July to December 2022. A total of 100 individuals were encompassed in the study, consisting of 50 individuals diagnosed with RA, of whom 42 were females and 8 were males, with an average age of 45.22 years. Additionally, there were 50 healthy control participants, 40 of whom were females and 10 were males, with an average age of 45.64 years. To assess the TLR4 transcript levels, blood samples were collected from each participant, and RN

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