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.
Anger is one of the problems of scientific importance that psychologists and education scientists are interested in, especially societies and educational environments, because if a child’s anger continues to develop into violence, then it becomes an unusual behavior, and an indication of the child's lack of adaptation to his family and his environment (Moses, 2013: 4) &n
... Show MoreBackground: Febrile convulsions are the most frequent type of seizures in children under 6 years of age. Significant percentage of these children will later suffer from recurrence of febrile convulsion.Objectives: To identify the main risk factors for recurrent febrile convulsions in children.Methods: we carried out a case control study involving 89 children those who experienced first attack of febrile convulsions and 92 children with recurrent attack of febrile convulsions. The study was conducted in Central Children Teaching Hospital, Baghdad during the period 2006- 2007. Results: Compared to children with first attack of febrile convulsion, children with recurrent seizures were younger at onset (4- 12m) (67% vs. 44%), mainly male (70
... Show MoreWarfarin dosing is challenging due to a multitude of factors affecting its pharmacokinetics (PK) and pharmacodynamics (PD). A novel personalised dosing algorithm predicated on a warfarin PK/PD model and incorporating CYP2C9 and VKORC1 genotype information has been developed for children. The present prospective, observational study aimed to compare the model with conventional weight-based dosing. The study involved two groups of children post-cardiac surgery: Group 1 were warfarin naïve, in whom loading and maintenance doses were estimated using the model over a 6-month duration and compared to historical case-matched controls. Group 2 were already established on maintenance therapy a
Background: Mental health of children has recently been
receiving increased attention in many parts of the world.
However, such attention has been lacking in developing
countries, particularly in the form of systematic research
Aim: The study aimed to find out the frequency of
behavior disorders in a sample of primary school children
and the different social and demographic factors that might
be related to this disorder.
Methods: The study is a cross-sectional one that included
918 primary school pupils in both urban and rural areas of
Baghdad. Rutter's questionnaire teacher's version was used
to assess the pupils, and the demographic data was obtained
by special questionnaire sent to the parents to be
Construction contractors usually undertake multiple construction projects simultaneously. Such a situation involves sharing different types of resources, including monetary, equipment, and manpower, which may become a major challenge in many cases. In this study, the financial aspects of working on multiple projects at a time are addressed and investigated. The study considers dealing with financial shortages by proposing a multi-project scheduling optimization model for profit maximization, while minimizing the total project duration. Optimization genetic algorithm and finance-based scheduling are used to produce feasible schedules that balance the finance of activities at any time w
Background Bloodstream infection (BSI) is a life-threatening condition caused by the presence of microorganisms, generally caused by a range of bacteria in the blood. Objectives The aim of this study was to evaluate the possible role of procalcitonin (PCT) and C-reactive protein (CRP) as biomarkers of pediatric BSI. Methodology The study was conducted on 150 blood samples collected from the patient who admitted to Children Welfare Teaching Hospital, Medical City, Baghdad. During the period from November 2020 to March 2021, ninety blood samples from them were positive culture and 60 blood samples were negative culture (control group). The isolates were identified depending on the morphological, microscopic examination, and biochemical tests.
... Show MoreStart your abstract here the objective of this paper is to study the dynamical behaviour of an eco-epidemiological system. A prey-predator model involving infectious disease with refuge for prey population only, the (SI_) infectious disease is transmitted directly, within the prey species from external sources of the environment as well as, through direct contact between susceptible and infected individuals. Linear type of incidence rate is used to describe the transmission of infectious disease. While Holling type II of functional responses are adopted to describe the predation process of the susceptible and infected predator respectively. This model is represented mathematically by
Gestational diabetes mellitus (GDM) is a growing health concern that usually appears during the second and third trimester stage of pregnancy and is characterized by carbohydrate intolerance of variable severity. The aim of the present study was to scrutinize the relationship between the G972R polymorphism of the insulin receptor substrate-1 (IRS-1) gene with GDM in the Iraqi female population. One hundred and twenty of blood samples taken from healthy women (control) and women with gestational diabetes mellitus in 3rd trimester stage of pregnancy, fasting blood glucose (FBG) and HbA1c% measured to diagnose GDM, lipid profile (cholesterol, triglyceride, HDL, LDL, and VLDL), insulin concentration, insulin resistance and beta cell function to
... Show MoreInflammatory bowel disease (IBD) a chronic inflammatory condition of the gastrointestinal tract characterized by alternating episodes of clinical relapse and remission (Wallace, 2014), with Crohn's disease (CD) and ulcerative colitis (UC) being the two primary subtypes (Souza, 2016). The present study was achieved in Baghdad teaching hospital from November 2021 to June 2022 to prove if the diagnostic marker of Crohn’s disease (CD) (IL-6, CRP and Calprotectin( are rises in saliva as in sera and if there are significant difference in the levels of those markers between the Crohn’s disease (CD)group and control group.
The recent study was measured the levels of C-reactive protein (CRP), Interleukin-6 (IL6
... Show More