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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
Sun Oct 06 2013
Journal Name
Journal Of Educational And Psychological Researches
Awareness of children 's rights from the perspective of parents and educators kindergarten in the city of Baghdad
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The subject of children's rights in the modern era of the priorities of educators , because the child in the community is the future , which is held by the hope which is the basis for society in the renaissance and progress so quickly communities to prove these rights through its various institutions and issued legislation and held numerous conferences and taking specialists the field of childhood Aatron aspects of this rights and Aasalunha including a benefit for children until tomorrow for the rights of children , psychological and social health and educational . Therefore, the current study focused on the awareness of parents and educators of children's rights as individuals most closely satisfying their needs and rights. The

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Publication Date
Wed Jun 24 2020
Journal Name
Neuroimaging - Neurobiology, Multimodal And Network Applications
Electroencephalogram Based Biomarkers for Detection of Alzheimer’s Disease
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Alzheimer’s disease (AD) is an age-related progressive and neurodegenerative disorder, which is characterized by loss of memory and cognitive decline. It is the main cause of disability among older people. The rapid increase in the number of people living with AD and other forms of dementia due to the aging population represents a major challenge to health and social care systems worldwide. Degeneration of brain cells due to AD starts many years before the clinical manifestations become clear. Early diagnosis of AD will contribute to the development of effective treatments that could slow, stop, or prevent significant cognitive decline. Consequently, early diagnosis of AD may also be valuable in detecting patients with dementia who have n

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Publication Date
Tue Sep 01 2020
Journal Name
Asian Journal Of Pharmacy And Pharmacology
Genetic polymorphisms associated with diabetic foot ulcer: A review article
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Publication Date
Tue Sep 01 2020
Journal Name
Asian Journal Of Pharmacy And Pharmacology
Genetic polymorphisms associated with diabetic foot ulcer: A review article
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Diabetic foot ulcer (DFU) or Lower limb ulcers are one of the major complications caused by diabetes mellitus especially when patients fail to maintain tight glycemic control. DFU is linked to multiple risk factors along with the genetic factors and ethnicity which play a significant role in the development of DFUs through their effects on multiple aspects of the pathophysiological process. This narrative review aimed to summarize all the previous studies within the last ten years associating gene polymorphism and DFU. Polymorphism associated with vascular endothelial growth factor (rs699947), the G894T polymorphism of the endothelial nitric oxide synthase gene, interleukin-6–174 G>C gene polymorphism, heat shock protein 70 gene polymorph

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Publication Date
Sun Dec 06 2009
Journal Name
Baghdad Science Journal
Automatic Block Selection for Synthesizing Texture Images using Genetic Algorithms
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Texture synthesis using genetic algorithms is one way; proposed in the previous research, to synthesis texture in a fast and easy way. In genetic texture synthesis algorithms ,the chromosome consist of random blocks selected manually by the user .However ,this method of selection is highly dependent on the experience of user .Hence, wrong selection of blocks will greatly affect the synthesized texture result. In this paper a new method is suggested for selecting the blocks automatically without the participation of user .The results show that this method of selection eliminates some blending caused from the previous manual method of selection.

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Publication Date
Thu Oct 01 2015
Journal Name
Engineering And Technology Journal
Genetic Based Optimization Models for Enhancing Multi- Document Text Summarization
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Publication Date
Fri Apr 01 2011
Journal Name
Al-mustansiriyah Journal Of Science
A Genetic Algorithm Based Approach For Generating Unit Maintenance Scheduling
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Publication Date
Sat May 01 2021
Journal Name
Journal Of Physics: Conference Series
A Parallel Adaptive Genetic Algorithm for Job Shop Scheduling Problem
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Publication Date
Wed Jul 01 2020
Journal Name
Indian Journal Of Forensic Medicine & Toxicology
Prothrombotic changes in patients with end-stage renal disease and its relation to thrombotic cardiovascular complication
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There is a great risk of cardiovascular disease (CVD) and vascular thrombosis in patients with End-Stage Renal Disease (ESRD). These patients exhibit numerous abnormalities in coagulation, fibrinolytic, inhibitory protein abnormalities in multiple levels. The study aimed to assess hypercoagulable changes by measuring the levels of antithrombin, plasma fibrinogen and FXII activity in patients with ESRD, and to find their correlation with Hemoglobin (Hb) level, WBC count, reticulocyte percentage and platelet count. This study was conducted at Al-Hayat center, Al Karama Teaching Hospital on 50 ESRD patients aged < 60 years of both genders. In addition, 20 apparently healthy individuals were included as a control group. The mean Hb level, total

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Publication Date
Sun Mar 07 2010
Journal Name
Baghdad Science Journal
Lymphocyte phenotyping in untreated children patients with chronic allergic asthma
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This study aimed to isolate and phenotype lymphocytes in untreated children patients with chronic allergic asthma. To reach such aim the study involved (25) patients from children (17 male and 9 female) whom their ages where between (3-10) years, in addition to (15) apparently healthy children (9 male and 6 female) in the same ages involved as control group. The data demonstrated that there was a significant increase in the mean percentages of T-lymphocytes (CD3+ cells) in the peripheral blood of patients (66.75±0.29)**, in comparison with control group (43.58±0.19), a significant increase in the mean percentages of T-helper lymphocytes (CD4+ cells) in the pe

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