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 electric quadrupole moments for some scandium isotopes (41, 43, 44, 45, 46, 47Sc) have been calculated using the shell model in the proton-neutron formalism. Excitations out of major shell model space were taken into account through a microscopic theory which is called core polarization effectives. The set of effective charges adopted in the theoretical calculations emerging about the core polarization effect. NushellX@MSU code was used to calculate one body density matrix (OBDM). The simple harmonic oscillator potential has been used to generate the single particle matrix elements. Our theoretical calculations for the quadrupole moments used the two types of effective interactions to obtain the best interaction compared with the exp
... Show MoreDiscussed the research variables are important, privatization options and strategic analysis of the external environment, and that the purpose of the research is the trade-off between privatization options and choose the most appropriate alternative in proportion to the external environment, the research aims to determine the privatization the most appropriate option for companies and public contracting, showing the importance of the study provide the privatization of public companies as a strategy can all its way public sector organizations from the transfer of work practices or private sector organizations and mechanisms to it as contributing to improving the level of skills Develop the current and future level of performance,
... Show MoreThis research is studying technique sculptures super - realism, search through, how the method of work, and the search for the materials used in their manufacture, and this is the first study in the field of art and the field of academic study in the country.Research consists of an introduction, And four sections, The introduction containing information on: research problem, Importance of research, Goals of the research, Limits of research, research approach, and research tools.The first section contains a technical study sculptures super -realism in contemporary sculpture, while the second section includes a search for alternative materials available in the local markets, for making sculptures super - realism, the third section dedicate
... Show MoreCircular thin walled structures have wide range of applications. This type of structure is generally exposed to different types of loads, but one of the most important types is a buckling. In this work, the phenomena of buckling was studied by using finite element analysis. The circular thin walled structure in this study is constructed from; cylindrical thin shell strengthen by longitudinal stringers, subjected to pure bending in one plane. In addition, Taguchi method was used to identify the optimum combination set of parameters for enhancement of the critical buckling load value, as well as to investigate the most effective parameter. The parameters that have been analyzed were; cylinder shell thickness, shape of stiffeners section an
... Show MoreThe research discusses the need to find the innovative structures and methodologies for developing Human Capital (HC) in Iraqi Universities. One of the most important of these structures is Communities of Practice (CoPs) which contributes to develop HC by using learning, teaching and training through the conversion speed of knowledge and creativity into practice. This research has been used the comparative approach through employing the methodology of Data Envelopment Analysis (DEA) by using (Excel 2010 - Solver) as a field evidence to prove the role of CoPs in developing HC. In light of the given information, a researcher adopted on an archived preliminary data about (23) colleges at Mosul University as a deliberate sample for t
... Show MorePhotonic Crystal Fiber Interferometers (PCFIs) are widely used for sensing applications. This work presents the fabrication and study the characterization of a relative humidity sensor based on a polymer-infiltrated photonic crystal fiber that operates in a Mach- Zehnder Interferometer (MZI) reflection mode. The fabrication of the sensor only involves splicing and cleaving Photonic Crystal Fiber (PCF) with Single Mode Fiber (SMF). A stub of (LMA-10) PCF spliced to SMF (Corning-28). In the splice regions. The PCFI sensor operation based on the adsorption and desorption of water vapour at the silica-air interface within the PCF. The sensor shows a high sensitivity to RH variations from (27% RH - 95% RH), with a change in its reflected powe
... Show MoreThe effect of the annealing on the optical transmission , absorp tion coefficient,
dielectric constants (ε
r
),( ε
i
) ,Skin depth and the optical ener gy gap of (ZnO)x(CdO)1-x thin
films with (x=0.05) deposited on preheated glass substrates at a temperature of (450 C°) by
chemical pyrolysis technique were performed . These f ilms show direct allowed inter band
transition that influenced by annealing at ( 450 C°) for two hours . And it also found that the
optical ener gy gap has been increased fro m about (2.50 eV) before annealing to about (2.65
eV) after annealing , fro m the analysis of the absorp tion and transmission sp ectra in the
wavelength range (380-900nm) . The results show t
Abstract: The researcher aims to highlight the historical frames of political development in royal regime era (1921-1949) and study its transitions on social-political aspect for the various periods during this consistent era of Iraq history. As some elements played an important role in shaping this era’s features ,as well as 2hat succeed it, which mainly affected the political progression’s configuration, such as : political culture role, social and cultural foundation, state policy essence and the unofficial institutions remarkable role in influencing public awareness and concerning it's relation to the state ,the clan and religious institutions. The researcher employed Alexis de Tocqueville’s evaluation criteria and indi
... Show MoreThe red palm weevil Rhynchophorus ferrugineus (Olivier, 1790), which belongs to the family Curculionidae, order Coleoptera, is one of the most important palm pests, which leads to heavy losses in date palms. In the last few years, it has been recorded in Iraq, from Safwan city south of Iraq, where it was detected on date palm trees (Phoenix dactylifera L, Arecales: Arecaceae). In the current study, specimens of adult weevils were collected from infested date palms (Phoenix dactylifera), that showed signs of infection in Safwan district, south of Basra province. The results of the investigation showed the presence of phoretic mites associated with the red palm weevil Rhynchophorus ferrugineus (Olivier,
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