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.
Research on the automated extraction of essential data from an electrocardiography (ECG) recording has been a significant topic for a long time. The main focus of digital processing processes is to measure fiducial points that determine the beginning and end of the P, QRS, and T waves based on their waveform properties. The presence of unavoidable noise during ECG data collection and inherent physiological differences among individuals make it challenging to accurately identify these reference points, resulting in suboptimal performance. This is done through several primary stages that rely on the idea of preliminary processing of the ECG electrical signal through a set of steps (preparing raw data and converting them into files tha
... Show MoreThe economic units always sought to maintain its market position and Trchinh the technology management and modern methods that will support success factors .vdila about it has become a customer and one profitability analysis of the most practical way benefit of economic units as modern management focus their attention on achieving this satisfaction, as the customers make up the axis of the success of every organization and that there are many government units aiming to profit directs attention to customers and the number of these units increased continuously. The administration used the customer profitability analysis in order to obtain information to assist in making and decision-making process. How to use modern tec
... Show MoreDam operation and management have become more complex recently because of the need for considering hydraulic structure sustainability and environmental protect on. An Earthfill dam that includes a powerhouse system is considered as a significant multipurpose hydraulic structure. Understanding the effects of running hydropower plant turbines on the dam body is one of the major safety concerns for earthfill dams. In this research, dynamic analysis of earthfill dam, integrated with a hydropower plant system containing six vertical Kaplan turbines (i.e., Haditha dam), is investigated. In the first stage of the study, ANSYS-CFX was used to represent one vertical Kaplan turbine unit by designing a three-dimensional (3-D) finite element (F
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Objective(s): To determine the interventional program effectiveness on nurses' practices concerning diet instructions for orthopedic patients treated by internal fixation devices.
Methodology: A quantitative approach using prexperimental design is conducted to determine the effectiveness of an interventional program on nurses’ practices regarding orthopedic patients diet instruction and teaching after internal fixation implemented. The study has started from 1st of April 2022 and ended on 15th of December, 2022. The conduction of the study in Misan governorate / Al-Zaharawy surgical hospital. A non-probability, purpo
... Show MoreIn the geotechnical and terramechanical engineering applications, precise understandings are yet to be established on the off-road structures interacting with complex soil profiles. Several theoretical and experimental approaches have been used to measure the ultimate bearing capacity of the layered soil, but with a significant level of differences depending on the failure mechanisms assumed. Furthermore, local displacement fields in layered soils are not yet studied well. Here, the bearing capacity of a dense sand layer overlying loose sand beneath a rigid beam is studied under the plain-strain condition. The study employs using digital particle image velocimetry (DPIV) and finite element method (FEM) simulations. In the FEM, an experiment
... Show MoreBACKGROUND: Transverse fractures of the patella are important fractures with a wide variety of subtypes, the common incidence in the age group of 20–50 years. Surgical interference aims to achieve a perfect alignment of the joint surface, in addition to rigid fixation of the fracture for early re-habitation and early movement to retain the extensor mechanism of the knee joint. AIM: The aim of this study was to compare the radiological and functional outcomes of the displaced transverse patella fracture in adult patients treated by ORIF using tension band wiring versus cannulated screws with wiring. METHODS: A prospective analytic comparative study was conducted in Al-Kindy Teaching Hospital/Baghdad/Iraq for 18 months from Apr
... Show MoreThe paper present design of a control structure that enables integration of a Kinematic neural controller for trajectory tracking of a nonholonomic differential two wheeled mobile robot, then proposes a Kinematic neural controller to direct a National Instrument mobile robot (NI Mobile Robot). The controller is to make the actual velocity of the wheeled mobile robot close the required velocity by guarantees that the trajectory tracking mean squire error converges at minimum tracking error. The proposed tracking control system consists of two layers; The first layer is a multi-layer perceptron neural network system that controls the mobile robot to track the required path , The second layer is an optimization layer ,which is impleme
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