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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
Thu Jul 23 2026
Journal Name
Journal Of Baghdad College Of Dentistry
Prevalence of Pacifier Sucking Habit and Its Effect on Occlusion in Children Aged 1-5 Years in Baghdad City
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Background: Non-nutritive sucking habits are common in infants and toddlers. One of the most common non-nutritive sucking habits is pacifier; its prevalence varies from one population to another. This study was conducted to determine the prevalence of pacifier sucking habit among children aged 1-5 years old in Baghdad city and to assess its effect on the occlusion of primary dentition concerning posterior crossbite. Materials and methods: The study was carried out among 1222 children aged 1-5 years old, from which 50 children with continues pacifier sucking habit were chosen to be the study group, compared to 50 children without any sucking habit (control group) matching the study group in age and gender. Children were examined clinically t

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Publication Date
Sun Aug 24 2014
Journal Name
Wireless Personal Communications
Multi-layer Genetic Algorithm for Maximum Disjoint Reliable Set Covers Problem in Wireless Sensor Networks
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Publication Date
Mon Oct 06 2014
Journal Name
Journal Of Educational And Psychological Researches
The Effect of Increased Correction in Modifying Some Improper Eating Habits in Malnourished Children
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Not necessarily to be malnutrition is a result of poverty and lack of food, it may be the outcome of the wrong food practices; and the lack of knowledge in nutrition basis and chronic diseases. Some studies have confirmed that the more the knowledge in nutrition basis increased, the more the child has well-balanced food.

Unhealthy eating habits spread among children at an early age, which is one of the negative factors affecting the nutritional status they have causing various disorders as a result of lack or increase of food or lack of balance. The signs and symptoms of these disorders can be simple or can lead to deadly diseases.

Training children on proper eating habits in different fields of life is considered the mos

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Publication Date
Sun Jun 30 2013
Journal Name
Al-kindy College Medical Journal
Haemogloin Level, Blood Group, Chest X Ray Findings and Consanguinity in Thalassemic Children in AL Muthana Governorate
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Background: Thalassemia is characterized by the decrease or absence of the synthesis of one or more globin chains of hemoglobin. Thalassemia is distributed worldwide and is characterized by; regular blood transfusion which is creating alloimmunization to erythrocyte antigens is one of the major complications of regular blood transfusions in thalassemia, particularly in patients who are chronically transfused.Objectives: The aims of this study are to understand the immune system profile as the triggering factor for thalassemia.Methods: Thirty patients aging between one year and four months and twenty two years, twenty two of them were boys and eight were girls. Twenty nine patients, their parents are relative except one and studied in the

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Publication Date
Wed May 18 2016
Journal Name
Al-academy
The Role of T.V. Shaws in Transmitting Violence in Children: An Analytic Study for T.V. Chanels for Children During 1/3/2014 – 1/9/2014: يوسف محمد حسين
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Our study comes up to clarify the role of television in spreading the culture of violence with a child. This study represents one of the important studies that have tried to highlight the impact of these programmes, particularly cartoons, on the child's behaviors, actions and acquired habits.Violence considers a common phenomenon among the people, as the role of the media, particularly TV has a vital role due to its properties, characteristics and its significant impact on different segments and groups in society and in children particularly through exposure to programmes of films.The results of the study have been affected by the rising proportion of females to males, and that the contribution of real life has a big role in the child ac

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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
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
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
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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