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Clinical and Genetic Varieties of Gaucher Disease in Iraqi Children
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Abstract<p>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.</p>
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Publication Date
Thu Jan 30 2014
Journal Name
Al-kindy College Medical Journal
Hydatid Cyst Disease among Patients hospitalized at Baghdad teaching hospital: clinico-epidemiological study
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Background. Echinococcosis/ hydatitdosis is a zoonotic parasitic disease caused by the infestation of the larval form of the tapeworm of the genus Echinococcus .The Liver, lungs, and kidneys are the common areas of infestation.Objectives: To describe hydatid disease in hospitalized patients from a clinico-epidemiological perspectives.Methods:: A retrospective study was conducted over a period of 6 months extending from 15th of November 2011 to the 15th of May 2012 by reviewing records of 125 patients who were hospitalized at Baghdad Teaching Hospital during 2011and received medical and surgical treatment for hydatid cyst disease. The information covered the socio-demographic and clinical characteristics of the patientsResults:.The presen

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Publication Date
Thu Jun 01 2023
Journal Name
Bulletin Of Electrical Engineering And Informatics
A missing data imputation method based on salp swarm algorithm for diabetes disease
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Most of the medical datasets suffer from missing data, due to the expense of some tests or human faults while recording these tests. This issue affects the performance of the machine learning models because the values of some features will be missing. Therefore, there is a need for a specific type of methods for imputing these missing data. In this research, the salp swarm algorithm (SSA) is used for generating and imputing the missing values in the pain in my ass (also known Pima) Indian diabetes disease (PIDD) dataset, the proposed algorithm is called (ISSA). The obtained results showed that the classification performance of three different classifiers which are support vector machine (SVM), K-nearest neighbour (KNN), and Naïve B

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Publication Date
Sat Jun 01 2019
Journal Name
Journal Of Economics And Administrative Sciences
Comparison of some methods for estimating the parameters of the binary logistic regression model using the genetic algorithm with practical application
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Abstract

   Suffering the human because of pressure normal life of exposure to several types of heart disease as a result of due to different factors. Therefore, and in order to find out the case of a death whether or not, are to be modeled using binary logistic regression model

    In this research used, one of the most important models of nonlinear regression models extensive use in the modeling of applications statistical, in terms of heart disease which is the binary logistic regression model. and then estimating the parameters of this model using the statistical estimation methods, another problem will be appears in estimating its parameters, as well as when the numbe

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Publication Date
Thu Mar 01 2012
Journal Name
Journal Of Accounting And Financial Studies ( Jafs )
The role of tax exemption in attracting foreign investment and the possibility of activation in the Iraqi economy
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The tax exemption, whether wholly or partially, and for an unlimited duration of the investment or for a limited period of few years, is one of the encouraging things to the flow of foreign capital. And if necessary, impose tax on the profits of the invested capital, the promotion requires that not be discriminatory taxes or payments in the amount of money with the need to avoid double taxation. The tax exemption is granted by the government and the feature according to the law of a natural person or legal entity seeking from the government purports to achieve a set of political goals, economic and  social development. The reduction of taxes or grants partial exemption is one of the factors that encourage attract of direct foreign i

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Publication Date
Wed Jun 25 2025
Journal Name
Modern Sport
Administrative Skills and Their Role in Distinguishing the Institutional Performance of Directors of Sports Activity in Iraqi Universities
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The research aims to identify the administrative skills and their role in institutional performance, and used the descriptive approach in a survey style and correlational relations to suit the nature of the problem to be studied.The research community was identified with the directors of sports activity in the Iraqi universities in a deliberate manner, and their number is (134) directors, where two scales (administrative skills and institutional performance) were used and the two scales were distributed to the above-mentioned sample in order to obtain answers that meet the required and representative sample of the community on the day 3/12/2021. The answers to all the statements were completed and after processing the results statistically

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Publication Date
Sat Dec 01 2012
Journal Name
Journal Of Economics And Administrative Sciences
Comparison between the empirical bayes method with moments method to estimate the affiliation parameter in the clinical trials using simulation
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In this research the Empirical Bayes method is used to Estimate the affiliation parameter in the clinical trials and then we compare this with the Moment Estimates for this parameter using Monte Carlo stimulation , we assumed that the distribution of the observation is binomial distribution while the distribution with the unknown random parameters is beta distribution ,finally we conclude that the Empirical bayes method for the random affiliation parameter is efficient using Mean Squares Error (MSE) and for different Sample size .

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Publication Date
Sun Sep 22 2019
Journal Name
Baghdad Science Journal
Detection of CTX-M-type ESBLs from Escherichia coli Clinical Isolates from a Tertiary Hospital, Malaysia
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The present study aims to detect CTX-M-type ESBL from Escherichia coli clinical isolates and to analyze their antibotic susceptibility patterns. One hundred of E. coli isolates were collected from different clinical samples from a tertiary hospital. ESBL positivity was determined by the disk diffusion method. PCR used for amplification of CTX-M-type ESBL produced by E. coli. Out of 100 E. coli isolates, twenty-four isolates (24%) were ESBL-producers. E. coli isolated from pus was the most frequent clinical specimen that produced ESBL (41.66%) followed by urine (34.21%), respiratory (22.23%), and blood (19.05%).  After PCR amplification of these 24 isolates, 10 (41.66%) isolates were found to possess CTX-M genes. The CTX-M type ESBL

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Publication Date
Wed Dec 30 2015
Journal Name
Al-kindy College Medical Journal
Subclinical Hypothyroidism in Obese Iraqi Patients Attending Obesity Research and Therapy Unit
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ABSTRACTBackground Subclinical hypothyroidism is mild thyroid hormone deficiency, defined by elevation of serum thyroid-stimulating hormone concentration despite a normal free T3, free T4 level, can be distinguished by clinical and circumstantial observations from other conditions that cause this constellation of laboratory findings. The aim is to find the prevalence, anthropologic, and metabolic changes associate subclinical hypothyroidism(SH) in adult patients presented to obesity research and therapy unit (ORTU Objective: To find the prevalence of subclinical hypothyroidism (SH) in adult obese patients presented to obesity research and therapy unit (ORTU) in AL-Kindy College of medicine and to describe the anthropologic and metabolic

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Publication Date
Sun Jun 11 2017
Journal Name
Al-academy
Directorial Vision Between The Closed And Open In The Iraqi Theater Space
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This research deals with the concept of space in the theatrical performance and how the director works between two different spaces, the closed space and the open space. The question was how to use space according to the director's vision in the presentation. The problem of the research was whether the director of the Iraqi filmmaker could see the variable in the architectural space Or the place or space within the exhibition between open and closed, through the formation of the vision of the external components of intellectual and aesthetic and aesthetic, and impact on the relationship between the actor and the recipient to produce a new aesthetic space, and then the purpose of research and importance and limits and terminology The seco

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Publication Date
Mon Jan 01 2024
Journal Name
Wiadomości Lekarskie
Chemo-sensory loss and FUT2 gene in COVID-19 infected Iraqi dentists
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Aim: To find any association between specific ABO blood groups and FUT2 secretory status and COVID-19 in a sample of Iraqi dentists. Materials and Methods: For each participant, a questionnaire including demography, COVID-19 status, blood grouping, and RH factor, with chemo-sensitive symptoms was recorded. The saliva samples were collected and DNA was extracted from leukocytes. Sequencing of molecular detection of the FUT2 gene by real-time PCR and the data was done, whilst drawing the phylogenetic tree. Results: Out of 133, most of the dentists were female 61%, most were just under 35 years of age. The most participants in this study were predominantly with blood group O (40%), followed by B, A, and AB, with (90%) of them were RH+.

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