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.
The 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 MoreThis study deals with free convection heat transfer for the outer surface of two
cylinders of the shape of (Triangular & Rectangular fined cylinders with 8-fins),
putted into two different spaces; small one with dimension of (Length=1.2m,
height=1m, width=0.9m) and large one with dimension of (Length=3.6m, height =3m,
width=2.7m). The experimental work was conducted with air as a heat transport
medium. These cylinders were fixed at different slope angles (0o, 30o, 60o and 90o)
.The heat fluxes were (279, 1012, 1958, 3005, 4419) W/m2, where heat transferred by
convection and radiation. In large space, the results show that the heat transfer from
the triangular finned cylinder is maximum at a slope angle equals
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The main aim of this research has been associated with the study of relationship between competitive intelligence and strategic risk, and to deduct their specific trends, which are interpreted as predicted by research hypotheses according to a review of literature including prior studies. The basic theme of these hypotheses is related to the probability that declining levels of strategic risk and competitive positions of industrial companies is dependent upon the growing capacity to stay ahead of competitors in the market.
A purposive non-random
... Show MoreThis research deals with the attitude of oil press towards oil industry in the world and the extent of their concerns with the stages of oil industry relating to the abundance of oil and natural gas, as it is an international strategic and complementary industry. The researcher uses the survey method for content analysis of the initial article and the press news for two: years (2011-2012). The results if the study are as follows
1- Oil press is concerned with developing and the stages of the Arabic oil industry in the interest of OAPEC in the first place.
2- It is concerned with exploring, extracting, and marketing oil in the first place, then with refining operations in refineries and petrochemical plants in the second place, an
Due to the urgent need to develop technologies for continuous glucose monitoring in diabetes individuals, poten tial research has been applied by invoking the microwave tech niques. Therefore, this work presents a novel technique based on a single port microwave circuit, antenna structure, based on Metamaterial (MTM) transmission line defected patch for sensing the blood glucose level in noninvasive process. For that, the proposed antenna is invoked to measure the blood glu cose through the field leakages penetrated to the human blood through the skin. The proposed sensor is constructed from a closed loop connected to an interdigital capacitor to magnify the electric field fringing at the patch center. The proposed an tenna sensor i
... Show MoreSolid‐waste management, particularly of aluminum (Al), is a challenge that is being confronted around the world. Therefore, it is valuable to explore methods that can minimize the exploitation of natural assets, such as recycling. In this study, using hazardous Al waste as the main electrodes in the electrocoagulation (EC) process for dye removal from wastewater was discussed. The EC process is considered to be one of the most efficient, promising, and cost‐effective ways of handling various toxic effluents. The effect of current density (10, 20, and 30 mA/cm2), electrolyte concentration (1 and 2 g/L), and initial concentration of Brilliant Blue dye (15 and 30 mg/L) on
Background: Odontogenic tumors are a diverse group of lesions with a variety of clinical behavior and histopathologic subtypes, from hamartomatous and benign to malignant. The study aimed to examine the clinical and pathological features of odontogenic tumors in Baghdad over the last 11 years (2011–2021). Materials and Methods: The present retrospective study analyzed all formalin-fixed, paraffin-embedded tissue blocks of patients diagnosed with an odontogenic tumor that were retrieved from archives at a teaching hospital/College of Dentistry in Baghdad University, Iraq, between 2011 and 2021. The diagnosis of each case was confirmed by examining the hematoxylin and eosin stained sections by two expert pathologists. Data from pati
... Show More<span lang="EN-US">The fundamental of a downlink massive multiple-input multiple-output (MIMO) energy- issue efficiency strategy is known as minimum mean squared error (MMSE) implementation degrades the performance of a downlink massive MIMO energy-efficiency scheme, so some improvements are adding for this precoding scheme to improve its workthat is called our proposal solution as a proposed improved MMSE precoder (PIMP). The energy efficiency (EE) study has also taken into mind drastically lowering radiated power while maintaining high throughput and minimizing interference issues. We further find the tradeoff between spectral efficiency (SE) and EE although they coincide at the beginning but later their interests become con
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