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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 Oct 13 2026
Journal Name
Al-anbar University Journal Of Law And Political Sciences
The reasons for the fall of sanctions in the decisions and customs provisions in Iraqi law
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Publication Date
Fri Jun 28 2024
Journal Name
Qualitative Research In Education
His job role is in theatrical sports performance in the Iraqi Ministry of Youth and Sports
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The research aimed to identify the level of job security, the level of sports institutional performance, and the relationship, contribution and impact of job security to sports institutional performance from the point of view of workers in the Iraqi Ministry of Youth and Sports. The descriptive approach was adopted in the manner of correlational relationships on a sample of (400) individuals who were randomly selected by (33.333%) of the employees working in the institutions at the headquarters of the Ministry of Youth and Sports, amounting to a total of (2293) individuals for the sports season (2022-2023), and they are naturally distributed among (13) main institutions in the formations of the headquarters of this ministry, and after adopt

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Publication Date
Sun Jan 01 2023
Journal Name
8th Engineering And 2nd International Conference For College Of Engineering – University Of Baghdad: Coec8-2021 Proceedings
Prediction of pore and fracture pressure using well logs in Mishrif reservoir in an Iraqi oilfield
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Publication Date
Mon Sep 30 2024
Journal Name
Journal Of Obstetrics, Gynecology And Cancer Research
Effect of a Nutritional Education Program on Mother Knowledge Regarding Their Children Nutritional Status
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Scopus
Publication Date
Tue Dec 11 2018
Journal Name
Iraqi National Journal Of Nursing Specialties
Burden of Mothers’ Care for Children with Colostomy at Baghdad Medical City Teaching Hospital
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Objective(s): To assess the burden of mothers` care for child with colostomy and find out relationships between child and mother socio-demographic data with mothers` burden. Methodology: a descriptive study was conducted from 1 August 2013 to 1 September 2014. The sample consisted of 100 children and their mothers at Baghdad Teaching hospital in Baghdad city. A questionnaire was prepared based on the previous literature review, meeting mothers of children with colostomy, and the Zarit Burden Interview scale. Data has collected through the application of questionnaire and interview techniques. Results: T

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Publication Date
Sun Jul 26 2026
Journal Name
Discover Artificial Intelligence
Multi-classification of autism spectrum disorder behavior for children using explainable artificial intelligence techniques
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Precise and interpretable classification of autism-related behaviors is important for initial diagnosis, personalized intervention, and support arrangements. This study proposes an interpretable machine learning (ML) model using Light Gradient Boosting Machine (LightGBM) and Categorical Boosting (CatBoost) to classify behavioral patterns into four categories (normal, mild, moderate, and severe) associated with Autism Spectrum Disorder (ASD) based on a custom 377-instance survey dataset from Iraqi parents and teachers of children aged 6-12. The model observes 16 key features across communication and social interaction, repetitive behaviors, language, and adaptive skills, preprocessed via interquartile range (IQR) outlier removal, me

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Crossref
Publication Date
Fri Feb 01 2019
Journal Name
International Journal Of Biology, Pharmacy And Allied Sciences
PREVALENCE OF HEPATITIS B AND C VIRUS INFECTION AMONG PATIENTS WITH VON- WILL BRAND DISEASE AT MEDICAL CITY / BAGHDAD 2018
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ABSTRACT Background: Viral hepatitis places a heavy burden on the health care. Large number of patient with bleeding disorders has chronic hepatitis C infection, while few are chronic carriers of hepatitis B virus. Aims of study: evaluate the prevalence of HBV, HCV infection among patient with Von Willebrand disease and to find factors that associated with the chance of getting the infection.

Publication Date
Tue Oct 13 2026
Journal Name
Journal Of Baghdad College Of Dentistry
Salivary cortisol among low birth weight 5 years old kindergarten children in relation to dental caries (comparative study)
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Background: Birth weight is a powerful predictor of infant growth and survival. Evidence now shows that children born with low birth weight face an increased risk of chronic diseases and have many health problems including oral health. The aims of this study were to assess the salivary flow rate, viscosity, and salivary cortisol among low birth weight kindergarten children aged 5 years old in Hilla centre, in relation to dental caries and compares them with the normal birth weight children of the same age and gender. Materials and methods: The total sample involved 80 children (40 low birth weights and 40 normal birth weights) aged 5 years old. The diagnosis and recording of severity of dental caries was recorded through the application of

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Publication Date
Sun Apr 03 2016
Journal Name
Journal Of Educational And Psychological Researches
The effect of a counseling program to develop the skills of friendship among introverts children
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Some children are suffering from introversion in kindergartens , so it must be confront and obviated by specialists because it will inevitably lead to unsatisfactory results reflect negatively on the individual and the community together . And the introvert child is a miserable child incapable of social interaction or give - and - take with colleagues , lack of integration of the child to life leads to the obstruction of  participation with his peers in various activities.     Introversion  causes a real emotional deficit to the children of kindergartens which limits of possibility of their intellectual development and mental growth and that because of their isolation and poor focus in education

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Publication Date
Sun Jul 31 2022
Journal Name
Pakistan Journal Of Medical & Health Sciences
Application of program for nurse’s management about care of children treated with Ventricular Peritoneal Shunt
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