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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
Sat Apr 01 2023
Journal Name
Siriraj Medical Journal
The Potential of Vitamin-D-Binding Protein as a Urinary Biomarker to Distinguish Steroid-Resistant from Steroid-Sensitive Idiopathic Nephrotic Syndrome in Iraqi Children
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Objective: To determine the ability of uVDBP to discern SRNS from steroid-sensitive nephrotic syndrome (SSNS) in Iraqi children. Materials and Methods: This cross-sectional study enrolled children with SRNS (n=31) and SSNS (n=32) from the pediatric nephrology clinic of Babylon Hospital for Maternity and Pediatrics over three months. Patients' characteristics in terms of demographics, clinical data, and urinary investigations were collected. Quantitative analysis of uVDBP levels was undertaken via a commercially available ELISA kit. Results: The median uVDBP values were significantly higher (p-value<0.001) in the SRNS group (median=10.26, IQR=5.91 μg/mL) than in the SSNS group (median=0.953, IQR=4.12 μg/mL). A negative correlati

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Publication Date
Fri Jan 01 2010
Journal Name
Iraqi Journal Of Science
RETRIEVING DOCUMENT WITH COMPACT GENETIC ALGORITHM(CGA)
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Publication Date
Fri Jan 01 2016
Journal Name
Ibn Al-haitham Journal For Pure And Applied Science
Genetic--Based Face Retrieval Using Statistical Features
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Publication Date
Thu Jan 30 2025
Journal Name
Iraqi Journal Of Agricultural Sciences
OUTBREAK OF TOBAMOVIRUSES AND POTEXVIRUSES ASSOCIATED WITH DISEASE EPIDEMICS IN TOMATO PRODUCTION AREA OF IRAQ
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This study was initiated to examine the tomato-infecting viruses belonging to the Tobamovirus and Potexvirus genera in Iraq. Field observations and surveys were carried out for three successive cropping seasons (2020/21 to 2022/23) in selected tomato production areas. The purpose was to identify the main viruses associated with tomato epidemics and assess the impact of different tomato cultivars on disease occurrence. A total of 700 tomato leaf samples were collected from seven governorates (Baghdad, Diyala, Babylon, Najaf, Kerbala, Nasiriya, and Basrah) and tested using pathogen-specific immunostrip kits. The survey showed a presence of Tomato brown rugose fruit virus (ToBRFV), Tobacco mosaic virus (TMV), Pepper mild mottle virus (

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Publication Date
Sat May 04 2024
Journal Name
Sar Journal Of Pathology And Microbiology
Association between Celiac Disease and Human Leukocyte Antigen
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Coeliac disease is an immunologically mediated disease of the small intestinal mucosa, characterized by flattening of the small intestinal villi, increased numbers of intra-epithelial lymphocytes and inflammatory cell infiltrates in the lamina propria, resulting in gut damage and nonspecific malabsorption of nutrients. The disease is elicited by ingestion of gluten, a protein found in several cereals, principally wheat, but also barley and to a lesser extent, oats. Successful treatment is avoidance of dietary gluten. Long-standing evidence suggests a T-cell-mediated response to peptides derived from the gliadin fraction of wheat gluten, leading to immunologically mediated intestinal injury in genetically susceptible individuals. The

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Publication Date
Thu Jun 30 2016
Journal Name
Al-kindy College Medical Journal
Association between periodontitis and acquired coronary heart disease
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Background: The association between oral microbial infection and systemic disease is not a new concept. A major confounding issue is that oral infections often are only one of the many important factors that can influence systemic diseases .Objective: This study was conducted to evaluate the periodontal health status of patients with acquired coronary heart disease. Type of the study: Cross-sectional study.Methods: The study group consisted of 200 patients with an age range (35-70) years, having coronary heart disease .This study group were compared to a control group of non-coronary heart disease (200 individuals ) matching with age and gender. The oral parameters were examined including the periodontal conditions, assessment of periodo

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Publication Date
Fri Dec 23 2022
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Preparation and in-vitro Evaluation of Secnidazole as Periodontal In-situ Gel for Treatment of Periodontal Disease
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This study aims to develop a thermosensitive mucoadhesive periodontal in situ gel of secnidazole for local release of drug for treatment of periodontitis, in order to increase the drug residence time and to increase patient compliance while lowering the side effects of the drug.

Cold method was used to prepare 30 formulas of secnidazole periodontal in situ gel, using different concentrations of thermosensitive polymers (poloxamer407 alone or in combination with poloxamer 188) and methyl cellulose (MC ) or hydroxypropyl methylcellulose (HPMC K4M )in different concentrations used as mucoadhesive polymer and the resultant formulations were subjected to several tests such as   gelation temperature GT, appearance and pH value. The fo

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Publication Date
Sat Apr 20 2024
Journal Name
Ibn Al-haitham Journal For Pure And Applied Sciences
Study of Irisin in End Stage Renal Disease on Hemodialysis
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Irisin is a myokine that controls energy metabolism by making adipose tissue brown. The present goal in doing this research was to determine how irisin concentration relates to other biochemical markers of disease. Hemodialysis (HD) for chronic kidney failure. The study included 30 individuals with end-stage renal disease on HD and 30 healthy subjects as the control group. The ages of all patients and the control group ranged from (25 to 60) years. The excluded criteria included patients with viral hepatitis and diabetes. Serum irisin concentration and the level of fasting serum glucose (FSG), urea, creatinine (Cr), total protein (TP), albumin (Alb), albumin to creatinine ratio (ACR), total cholesterol (TC), alanine aminotransferase (ALT),

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Publication Date
Mon Mar 08 2021
Journal Name
Baghdad Science Journal
The first recording of leaf blight disease Defla in Iraq
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The results showed the spread of disease blight leaves caused by injury fungus Alternaria in different areas of cultivation in the city of Baghdad where he was recording the highest rate and the severity of the disease of 100% and 80%, respectively, in the Abu Ghraib area and the least of 20% and 12% respectively in the Amiriya district results showed test pathogenicity of the fungus pathogen emergence of symptoms of the disease superficial discoloration Authority of black paper when wound areas and yellowing of leaves about race as centrist and leaky latest country clear ????? on Central race after 48 hours ....

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Publication Date
Mon Jun 14 2021
Journal Name
Biosense Dementia 2017 - International Workshop On Biosensors For Dementia From 13 – 14 June 2017 – Plymouth University, Plymouth, Uk
Changes in the Electroencephalogram as a Biomarker of Alzheimer’s Disease
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The rapid increase in the number of older people with Alzheimer’s disease (AD) and other forms of dementia represents one of the major challenges to the health and social care systems because of a large number of people affected. Early detection of AD makes it possible for patients to access appropriate services and to benefit from new treatments and therapies, as and when they become available, and to plan for the future. The onset of AD starts many years before the clinical symptoms become clear. A biomarker that can measure the brain changes in this period would be useful for early diagnosis of AD. Potentially, the electroencephalogram (EEG) can play a valuable role in early detection of AD. Damage caused to the brain due to AD leads t

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