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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
Fri Nov 21 2025
Journal Name
Al-anbar University Journal Of Law And Political Sciences
The reasons for the fall of sanctions in the decisions and customs provisions in Iraqi law
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Publication Date
Fri Nov 25 2022
Journal Name
Baghdad Science Journal
Evaluating the Activity of Ultrasound on Biofilm Formation by Acinetobacter baumannii isolated from clinical Specimens
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Acinetobacter baumannii received attention for its multi-drug resistant associated with many severe infections and outbreaks in clinical environment. The aims of the study are to investigate the antibiotic susceptibility profile of clinically isolated A. baumannii, biofilm production, and the efficiency of Low Frequency Ultrasound (LFU) and honey to attenuate biofilm production. A total of 100 samples were taken from different sources from Baghdad hospitals. The susceptibility patterns revealed the percentage of pan drug resistant (PDR) isolates were 1.5 %, 72.7 % were extended drug resistant (XDR), 16.7 % were multidrug resistant (MDR), and 9.1 % were non MDR and sensitive to most antibiotics used. The ability to form

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Publication Date
Sun Sep 03 2017
Journal Name
Baghdad Science Journal
Detection, purification and characterization of a bacteriocin produced by Bacillus subtilis NK16 exhibits a significant antimicrobial activity against clinical Staphylococcus spp.
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Bacteriocin is an important antimicrobial peptide that can be used in industrial and medical fields due to its characteristics of antibacterial, food preservation and anticancer activities. Fifty isolates of Bacillus sp were collected from different soil samples which were already recognized via morphological and biochemical identification process. The isolates were screened for bacteriocin production effective against Staphylococcus spp in order to select the highest producing isolate. The isolate NK16 showed the maximum bacteriocin production (80 AU/ml) which was further characterized as Bacillus subtilis NK 16 through using API identification system (API 20E and API 50CHB). Then, next step was to detect the optimal conditions for maximum

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Publication Date
Sun Oct 01 2017
Journal Name
Al–bahith Al–a'alami
The Diversity of Cultures and Ideologies in Society and its Impact on the Structure of Iraqi press
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The diversity of cultures is still the title of an Iraqi specificity that gave the society a diversity and this is reflected in the journalistic reality with the changing of the political system generate a new political and ideological life that differs from what is prevailed during the decades. However, its exacerbation of the degree of division is an additional duty for the press as a cultural platform and a knowledge bridge that contributes to the process of dialogue, addressing the differences, establishing a politically homogeneous structure through the state and socially by uniting all components of society and working to raise public awareness of the importance of national belonging to build a modern state. Cultural diversity is a

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Publication Date
Fri Dec 01 2017
Journal Name
Rawaa Emad Jaloud And Fadia Falahfadia Falah
Isolation and Identification of Fungal Propagation in Iraqi Meat and Detection of Aflatoxin B1 Using ELISA Technique
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Publication Date
Sat Jun 06 2020
Journal Name
International Journal Of Psychosocial Rehabilitation
Job Enrichment and Its Influence in Organizational Cynicism among Workers in Iraqi Youth and Sport Forums
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This study aims to (1) identify the level of job enrichment and organizational cynicism among workers in some youth and sport forums, and (2) identify the influence the job enrichment in the organizational cynicism from their perspective. A descriptive survey was used to guide this study. The study included 478 workers who were randomly selected from the youth and sport forums in Baghdad City in 2019. The Job Enrichment Scale and the Organizational Cynicism Scale were used. Data were analyzed using the statistical package for social science, version 26. The study results revealed that the level of job enrichment and organizational cynicism among workers were unsatisfactory. This calls for paying more attention to these phenomena and improve

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Publication Date
Fri Jan 01 2021
Journal Name
Anais Da Academia Brasileira De Ciências
Molecular characterization of viruses associated to leaf curl disease complex on zucchini squash in Iraq reveals Deng primer set could distinguish between New and Old World Begomoviruses
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Publication Date
Sun Jun 01 2014
Journal Name
Baghdad Science Journal
Levels of Glucose-6-phosphate Dehydrogenase in Type 1 Diabetes Mellitus patients with Nephropathy and Cardiovascular disease complication: Perry H. Saifullah|Saad M. Nida|Israa B. Raoof
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The aim of this study is to evaluate oxidative stress in diabetes mellitus (DM) Type1 by the measurement of Glucose-6-phosphate Dehydrogenase (G-6-PD), an enzyme expressed in human RBCs, is important in the generation of reduced glutathione which is the key product in oxidative stress controls. The Study was carried on 80 samples of blood and serum of National Diabetes Center (NDC). The study groups under fasting conditions and they divided as:20 samples of diabetes mellitus patients without complications and 20 samples of diabetes mellitus with cardiovascular (CV) complications and 20 samples of diabetes mellitus with Nephropathy (Neph) complications compared with 20 control group with average age (13-67) years.. The results sh

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Publication Date
Wed Jan 01 2020
Journal Name
Iraqi National Journal Of Nursing Specialties
Effectiveness of an education program for Caregivers Knowledge Related to Management of Children with Growth Hormone Deficiency in Outpatient Endocrine Clinics
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Objectives: The study aims to assess and evaluate the caregivers  knowledge  about management of the children with growth hormone deficiency and to find out the relationship between caregivers kowledge and caregivers age, gender, number of individual in house hold, Date of treatment started ,Caregivers level education and economic status Methodology: Quazi expermental study design was carried out at (Child's Central Teaching Hospital, Medical City of Al Imamian Al Khadhmain Teaching Hospital, and National Centre for Treatment and Research of Diabetes,Specialized Center for Endocrine Diseases and Diabetes, and Department of Medical City Children Welfare Teaching Hospital started  from 

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Publication Date
Thu Dec 15 2022
Journal Name
Al-academy
The controversy of aesthetic interpretation between the sculptures and their titles Contemporary Iraqi Sculpture "Experiments in Contemporary Iraqi Sculpture Exhibition as a Model"
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The research tagged with the controversy of aesthetic interpretation between the sculptures and their titles in contemporary Iraqi sculpture, “Exhibition of Experiments in Contemporary Iraqi Sculpture as a Model”, and it is one of the new research that contributes to strengthening the critical path in the Iraqi fine movement, as the first chapter dealt with the research problem stemming from the question: What is the impact of the aesthetic hermeneutic controversy between the title and the title in contemporary Iraqi sculpture?, and do the titles of the sculptural works help to understand or enhance their contents?, The research objective included: To identify the controversy of the aesthetic interpretation of sculptures and their ti

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