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.
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
... Show MoreObjective(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
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
... Show MoreABSTRACT 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.
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
... Show MoreSome 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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