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.
Background: 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 MoreBackground: 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
Warfarin 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
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 MoreExperts of Psychology and education emphasized that childhood is one of the most important stages in the formation of human personality, and the most influential in his public life, especially the stage in which he lives within his family, which must provide him with the requirements of healthy growth of physical, emotional, moral and social. Emotional-social connection of the child to his family, is especially important in determining the characteristics of his social character, in accordance with the norms and values prevailing in society. This requires the child to be cared for and cared for, and to deal with him in a healthy social manner. So as to achieve positive growth and harmony in the process of social control in internal
... Show MoreSickle cell disease (SCD) comprises an inherited blood disorder that is life long and affects many people globally. In spite of the development in treatment, SCA is a considerable cause of mortality and morbidity. The present study tries to assess the role of leukocytes represented by β integrin(CD18) and platelets and their productivity in the pathogenicity of disease during the steady state and crisis in comparison with the healthy as-control group, SCD patients (15) enrolled during crisis and steady state (follow up) showed a significant increase in leukocytes and platelets cells productivity during crisis when compared to the steady state and in the steady state when compared to the healthy control group . In this study, SCD patho
... Show MoreGhrelin and leptin are two hormones that possess multiple functions, including appetite regulation, maintenance of the tissue homeostasis and regulation of proinflammatory cytokines. A few studies on serum ghrelin and leptin levels in autoimmune diseases have exhibited conflicting results. Therefore, the present study aimed to investigate the relationship between the two energy balance hormones and autoimmune diseases. Serum ghrelin and leptin levels were assessed in 94 adult patients, 61 females and 33 males, with various autoimmune diseases (celiac disease, type 1 diabetes mellitus and rheumatoid arthritis) as well as in 35 healthy people as controls, using commercially available ELISA kits. Statistically important distinction
... 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
Abstract
Prescribing drugs to patients to treat ailments or reducing their morbidity may not be enough, even if the drugs were all indicated and in the right dose. Clinical pharmacists play a pivotal role in conducting information and instruction to patients and conveying feedback to treating physician when appropriate, and the final goal is in the interest of the patient. Identification and classification of drug related problems and discussing them with the health care providers. Prospective, interventional, clinical study for 180 hemodialysis patients, and was designed as two phases, an observational phase to identify drug related problems and classifying them according to the latest Pharmaceutical
... Show MoreMulti-drug resistance in Listeria monocytogenes is considered a major public health problem associated with foodborne outbreaks and causes high hospitalization and mortality rates. This study aimed to investigate the antimicrobial resistant genes among Listeria monocytogenes isolated from meat and clinical samples. Phenotypically, the isolates were tested for their susceptibility against the 12 most commonly used antimicrobials in veterinary and human therapy via the disc diffusion method, while conventional PCR was performed to study the presence or absence of 14 resistance genes predicted in L. monocytogenes isolates. The study established that 30(66.66%) of L. monocytogenes isolates showe
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