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.
Abstract:
The current research aims to distinguish the talent for the kindergarten
children and its relation with some changes . The research included ( 170 )
child (male , female ) from the kindergarten children on the year 2009 – 2010
the researcher had used PRED meter to achieve the goals of this research
after being sure from the honesty and the prove and the ( person ) connection
coefficient had been used to discover the relation between the talent and the
changes which had been mentioned in the research . The result proved that
the children had talents the toys and the educational scientifically scholarship
finally the researcher had presented some recommendations and suggestions
for other studies .<
Honorifics are linguistic expressions which maintain social as well as religious respect to other people. They are linguistic techniques which express politeness to other interlocutors. Semantically speaking, honorifics are of two types: al-Laqab (title) and al-Kuniya (teknonyms) following a specific word order. They form part of the Arab recognitions and are mold into their social and communicative competence.
The study focuses upon religious and regional honorifics which convey deference and respect. It assumes that religious and cultural recognitions play vital roles in formulating and embedding the sense of honorifics. It is hypothesized that Arab people express respect to religious personalitie
... Show MoreBackground: Nutritional status during childhood is very important for individual development and growth. Nutrition has local and systemic effect on the oral health by affecting dental health and salivary composition. This study was aimed to determine effect of iron, sodium and potassium ions in saliva on the nutritional status and to determine the effect of nutritional status on caries severity among preschool children. Material and Methods: The sample consists of 90 children aged 4 and 5 years of both genders, selected from 6 kindergartens in Al-Resafa aspect of Baghdad province. Children classified according to their nutritional status into three groups (normalweight, underweight and overweight). Nutritional status was determined by usi
... Show MoreBackground:Open reduction and internal fixation (ORIF) of using miniplates and screws is the treatment of choice of mandibular fractures. It is important to know both: the region where the bone providesafirm anchorage, andthe topography of the dental apices and inferior alveolar nerve to avoiddamaging them when inserting the screw. The aim of this study is to determine the thickness of buccal cortical plate and that of buccal bone at the parasymphysis and mandibular body, thereby determining the area that provide afirm anchorage and the maximum length of mono-cortical screws that can be safely placed in these regions without injuring the tooth roots or mandibular nerve. Materials and Methods:The sample of the present study was 110 Iraqi sub
... Show MoreBackground: Dyslipidemia is defined as an abnormally high level of various lipids in the blood. It is considered a major risk for atherosclerosis and coronary artery disease. Genetic susceptibility can have a significant influence on the development and progression of dyslipidemia. ApoB-100 R3500Q mutation and ApoE variants are among those genetic risks for dyslipidemia. This study aims to assess the possible contribution of ApoB and ApoE variants on lipid profile among a group of early-onset ischemic heart disease (IHD) patients in comparison to a group of controls. Methods: Forty patients with dyslipidemia and early-onset IHD without chronic conditions likely to cause derangement of lipid levels were recruited to this case-control study
... Show MoreIn this paper, a compact genetic algorithm (CGA) is enhanced by integrating its selection strategy with a steepest descent algorithm (SDA) as a local search method to give I-CGA-SDA. This system is an attempt to avoid the large CPU time and computational complexity of the standard genetic algorithm. Here, CGA dramatically reduces the number of bits required to store the population and has a faster convergence. Consequently, this integrated system is used to optimize the maximum likelihood function lnL(φ1, θ1) of the mixed model. Simulation results based on MSE were compared with those obtained from the SDA and showed that the hybrid genetic algorithm (HGA) and I-CGA-SDA can give a good estimator of (φ1, θ1) for the ARMA(1,1) model. Anot
... Show MoreIn this paper, a mathematical model is proposed and studied to describe the spread of shigellosis disease in the population community. We consider it divided into four classes namely: the 1st class consists of unaware susceptible individuals, 2nd class of infected individuals, 3rd class of aware susceptible individuals and 4th class are people carrying bacteria. The solution existence, uniqueness as well as bounded-ness are discussed for the shigellosis model proposed. Also, the stability analysis has been conducted for all possible equilibrium points. Finally the proposed model is studied numerically to prove the analytic results and discussing the effects of the external sources for dis
... Show MoreCOVID 19 has spread rapidly around the world due to the lack of a suitable vaccine; therefore the early prediction of those infected with this virus is extremely important attempting to control it by quarantining the infected people and giving them possible medical attention to limit its spread. This work suggests a model for predicting the COVID 19 virus using feature selection techniques. The proposed model consists of three stages which include the preprocessing stage, the features selection stage, and the classification stage. This work uses a data set consists of 8571 records, with forty features for patients from different countries. Two feature selection techniques are used in