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 project of balad's major sewerage system is one of the biggest projects who is still in progress in salahulddin province provincial - development plan that was approved in 2013 . This project works in two parts ; the 1st is installing the sewerage networks (both of heavy sewerage & rain sewerage) and the 2nd is installing the life – off units (for heavy sewerage & rain sewerage , as well) . the directorate of salahuiddin is aiming that at end of construction it will be able to provide services for four residential quarters , one of the main challenges that project's management experience is how to achieve thes
... Show MoreAn Expression for the transition charge density is investigated
where the deformation in nuclear collective modes is taken into
consideration besides the shell model transition density. The
inelastic longitudinal C2 and C4 form factors are calculated using
this transition charge density for the Ne Mg 20 24 , , Si 28 and S 32
nuclei. In this work, the core polarization transition density is
evaluated by adopting the shape of Tassie model togther with the
derived form of the ground state two-body charge density
distributions (2BCDD's). It is noticed that the core polarization
effects which represent the collective modes are essential in
obtaining a remarkable agreement between the calculated inelastic
longi
In this paper, the memorization capability of a multilayer interpolative neural network is exploited to estimate a mobile position based on three angles of arrival. The neural network is trained with ideal angles-position patterns distributed uniformly throughout the region. This approach is compared with two other analytical methods, the average-position method which relies on finding the average position of the vertices of the uncertainty triangular region and the optimal position method which relies on finding the nearest ideal angles-position pattern to the measured angles. Simulation results based on estimations of the mobile position of particles moving along a nonlinear path show that the interpolative neural network approach outperf
... Show MoreThe effluent quality improvement being discharged from wastewater treatment plants is essential to maintain an environment and healthy water resources. This study was carried out to evaluate the possibility of intermittent slow sand filtration as a promising tertiary treatment method for the sequencing batch reactor (SBR) effluent. Laboratory scale slow sand filter (SSF) of 1.5 UC and 0.1 m/h filtration rate, was used to study the process performance. It was found that SSF IS very efficient in oxidizing organic matter with COD removal efficiency up to 95%, also it is capable of removing considerable amounts of phosphate with 76% and turbidity with 87% removal efficiencies. Slow sand filter efficiently reduced the mass of suspended
... Show MoreIn this study, the harvest of maize silage with the cross double row sowing method were tested with a single row disc silage machine in two different PTO applications (540 and 540E min-1) and at two different working speeds v1, v2 (1.8 and 2.5 km h-1). The possibilities of harvesting with a single row machine were revealed, and performance characteristics such as hourly fuel consumption, field-product fuel consumption and PTO power consumption were determined in the trials. The best results in terms of hourly fuel consumption and PTO power consumption were determined in the 540E PTO application and V1 working speed. When the fuel consumption of the field-product is evaluated, it is obtained with V2 working speed and 540E PTO application. As
... Show MoreParasitic diseases can affect infection with COVID-19 obviously, as protective agents, or by reducing severity of this viral infection. This current review mentions the common symptoms between human parasites and symptoms of COVID-19, and explains the mechanism actions of parasites, which may prevent or reduce severity of this viral infection. Pre-existing parasitic infections provide prohibition against pathogenicity of COVID-19, by altering the balance of gut microbiota that can vary the immune response to this virus infection.