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.
Objective: This study was conducted to identify the association of HLA-DRB1/DQB1 genes with the susceptibility or resistance to type 1 diabetes mellitus (T1D) among patients between the ages of five and eighteen.
Subjects and Methods: The study included 200 Sudanese participants, ages ranging from 5 to 18. One hundred participants were healthy non-diabetic as the control group and 100 with T1D as the case group. The investigation was carried out in Khartoum state. The selection of patients with T1D was from diabetic centers and hospitals. The allele-specific-refractory mutation system-polymerase chain reaction (ARMS-PCR) techniq
... Show MoreThe study was conducted at the fields of the Department of Horticulture and Landscape Gardening,College of Agriculture, University of Baghdad during the growing seasons of 2013- 2014 .forPerformance of Evaluation Vegetative growth and yield traits and estimate some important geneticparameter on seven selected breed of tomato which (S1-S7 ) Pure line. the results found significantdifferences between breeds in all study trails except clusters flowering number .S1 significantly plantlength which reached 227.3 .Also S1,S2 and S4 were significantly increased the number fruit for plant,Fruit weight Increased in S3 ,S6 and plant yield. Increased in S1, S4 ,S5. Genetic variation valueswere low in Floral clusters , TSS and fruit firmest and medium i
... Show MoreA genetic algorithm model coupled with artificial neural network model was developed to find the optimal values of upstream, downstream cutoff lengths, length of floor and length of downstream protection required for a hydraulic structure. These were obtained for a given maximum difference head, depth of impervious layer and degree of anisotropy. The objective function to be minimized was the cost function with relative cost coefficients for the different dimensions obtained. Constraints used were those that satisfy a factor of safety of 2 against uplift pressure failure and 3 against piping failure.
Different cases reaching 1200 were modeled and analyzed using geo-studio modeling, with different values of input variables. The soil wa
Sickle 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 MoreThe opportunistic multidrug resistance pathogen Pseudomonas aeruginosa has one or several flagella, and the numbers of these sophisticated machines are regulated by the flagellar regulator gene FleN. The flagellar hook gene FlgE is important for its synthesis, motility and tolerance to antibiotics. Bacteriahave resistance to antibiotics, especially to cephalosporin beta-lactam antibiotics. For the current study, 102 clinical specimens were collected and identified using routine laboratory tests and confirmed by Vitek-2 compact system. A total of 33 isolates of P. aeruginosa were identified. The antibiotic susceptibility test was done by the Vitek 2 Compact system. Flagellar gene detected by conventional PCR revealed that the FleN
... Show MoreBackground: Pleural effusion is a common clinical
problem.
Objective: The aim of the study was to evaluate the
diagnostic utility of Carcino embryonic antigen
(CEA), CA 15- 3, and alpha-feto protein ( AFP ) as
a tumor markers in serum and pleural effusion and
evaluate the value of combining them as a diagnostic
tools that are complementary to cytology in the
diagnosis of malignancies .
Methods: Forty patients (18 malignant and 22 benign
pleural effusion) were included in this study .The
serum and effusion levels of CEA, CA 15 – 3 and
AFP were measured using immunoradiometric assay
Results: from the 40 effusions studied 26 were
exudates and 14 were transudates. The level of
pleural effusions
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
Experts 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 MoreAnger 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
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