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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
Wed Jan 01 2014
Journal Name
Int. J. Adv. Res
Antibacterial activity of parsley and celery aqueous extract on the isolated bacteria from children UTI in Erbil city‏
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Publication Date
Thu Jan 13 2011
Journal Name
Tikrit Journal Of Agricultural Sciences
ESTIMATION OF GENE ACTION AND GENETIC PARAMETERS FOR SOME CHARACTERS OF YIELD AND ITS COMPONENTS IN SUMMER SQUASH (Cucurbita pepo L.) BY USING MEAN GENERATION ANALYSIS
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An experiment was carried out in the vegetables field of Horticulture Department / College of Agriculture / Baghdad University , for the three seasons : spring and Autumn of 2005 , and spring of 2007 , to study the type of gene action in some traits of yield and its components in summer squash crosses (4 x 3 = cross 1 , 3 x 7 = cross 2 , 3 x 4 = cross 3 , 3 x 5 = cross 4 , 5 x 1 = cross 5 , 5 x 2 = cross 6). The study followed generation mean analysis method which included to each cross (P1 , P2 , F1 , F2 , Bc1P1 , Bc1P2) , and those populations obtained by hybridization during the first and second seasons. Experimental comparison was performed in the second (Two crosses only) and third seasons , (four crosses) by using RCBD with three repl

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Publication Date
Thu Mar 10 2011
Journal Name
Tikrit Journal Of Agricultural Sciences
ESTIMATION OF GENE ACTION AND GENETIC PARAMETERS FOR SOME VEGETATIVE AND FLOWERY GROWTH CHARACTERS IN SUMMER SQUASH (Cucurbita pepo L.) BY USING MEAN GENERATION ANALYSIS
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An experiment was carried out in the vegetables field of Horticulture Department / College of Agriculture / Baghdad University , for the three seasons : spring and Autumn of 2005 , and spring of 2007 , to study the type of gene action in some traits of vegetative and flowery growth in summer squash crosses (4 x 3 = cross 1 , 3 x 7 = cross 2 , 3 x 4 = cross 3 , 3 x 5 = cross 4 , 5 x 1 = cross 5 , 5 x 2 = cross 6). The study followed generation mean analysis method which included to each cross (P1 , P2 , F1 , F2 , Bc1P1 , Bc1P2) , and those populations obtained by hybridization during the first and second seasons. Experimental comparison was performed in the second (Two crosses only) and third seasons , (four crosses) by using RCBD with three

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Publication Date
Sun Feb 12 2017
Journal Name
World J Exp Biosc
Detection and sequencing of blaVEB-1 gene in clinical isolates of Proteus mirabilis Isolates from Baghdad City`s hospitals
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In Present study, 25 clinical isolates of Proteus spp. of clinical samples, urine, wounds and burns collected from different hospitals in Baghdad city, all isolates were identified as Proteus mirabilis using different bacteriological media, biochemical assays and Vitek-2 system. It was found that 15 (60%) isolates were identifying as P. mirabilis. The susceptibility of P. mirabilis isolates to cefotaxime was 66.6 %, while to ceftazidime was 20%. Extended spectrum β-lactamses producing Proteus was 30.7 %. DNA of 5 isolates of P. mirabilis was extracted and detection for blaVEB-1 gene by using multiplex polymerase chain reaction (PCR). Results showed that the presence of this gene in all tested isolates, as an important indicator for increas

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Publication Date
Tue Jul 01 2025
Journal Name
Journal Of The Faculty Of Medicine Baghdad
Clinical Diagnostic Value of Stromelysin-2 and Highly Sensitive-Cardiac Troponin I in the Severity of Coronary Artery Obstruction
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Background: Coronary artery disease is a leading cause of death worldwide. Troponin is released into blood from patients with reversible myocardial ischemia. Stromelysin-2 is also involved in the development and progression of atherosclerosis by tissue remodeling and degradation of extracellular matrix proteins.Objectives: To investigate the role of serum high-sensitive cardiac troponin I (hs-cTn I) and Stromelysin-2 (Str-2) in the diagnosis and determination of the severity of coronary artery obstruction.Methods: This cross-sectional study was conducted on 125 subjects undergoing coronary angiography for suspicion of coronary artery disease in Baghdad Teaching Hospital/ Medical City complex/ Baghdad/ Iraq by the Department of Bioch

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Publication Date
Wed Jun 07 2023
Journal Name
Journal Of Educational And Psychological Researches
Building a Training Program in the development of the Willpower of the Kindergarten Children
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The research aims to build a training program to develop the willpower in the kindergarten children. In order to achieve the objective of the research, the two researchers have developed a Training Program according to the following steps:

- Determining the general objective of the Training Program.

- Determining the behavioral objectives of the Training Program.

- Determining the content of the Training Program.

- Implementing the content of the Training Program sessions.

- Evaluating the Training Program.

The training program consisted of (15) sessions, each session included a set of parts (title, general objective, methods, time and place to implement the sessions, behavioral goals, tool

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Publication Date
Wed Sep 29 2021
Journal Name
College Of Islamic Sciences
Factors affecting the upbringing of good children Lect
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Raising children occupies a prominent place in Islam as a step paving the way for the success of reform projects on the level of diverse human life, and for this reason the recommendation for education was mentioned in the mission entrusted to the Prophet (PBUH), the Almighty said:

(( هُوَ الَّذِي بَعَثَ فِي الْأُمِّيِّينَ رَسُولًا مِّنْهُمْ يَتْلُو عَلَيْهِمْ آيَاتِهِ وَيُزَكِّيهِمْ وَيُعَلِّمُهُمُ الْكِتَابَ وَالْحِكْمَةَ وَإِن كَانُوا مِن قَبْلُ لَفِي ضَلَالٍ مُّبِينٍ))  Jumaa verse /38

The topic of the research that is in your hands deals with the

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Publication Date
Sun Sep 22 2024
Journal Name
Journal Of Petroleum Research And Studies
Optimizing Gas Lift for Improved Oil Recovery in a Middle East Field: A Genetic Algorithm Approach
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This paper presents a study of the application of gas lift (GL) to improve oil production in a Middle East field. The field has been experiencing a rapid decline in production due to a drop in reservoir pressure. GL is a widely used artificial lift technique that can be used to increase oil production by reducing the hydrostatic pressure in the wellbore. The study used a full field model to simulate the effects of GL on production. The model was run under different production scenarios, including different water cut and reservoir pressure values. The results showed that GL can significantly increase oil production under all scenarios. The study also found that most wells in the field will soon be closed due to high water cuts. Howev

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Publication Date
Tue Mar 01 2022
Journal Name
Results In Engineering
Predictive model for stress at ultimate in internally unbonded steel tendons based on genetic expression programming
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Crossref (17)
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Publication Date
Wed Jun 17 2020
Journal Name
Journal Of Research In Medical And Dental Science
Impact of Thumb Sucking Habit on Eruption of Permanent Teeth and Intelligence Quotient Among Children in Karbala City, Iraq
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Background: There is a pronounced controversy regarding the dental and mental consequences of thumb sucking habit, which is a familiar nonnutritive pattern of sucking. Commonly, this behavior is harmless, yet those who sustain this pattern may have dental alterations and emotional difficulties. Children’s intelligence level influences their capabilities to judge, evaluate and handle priorities and/or problems profoundly and precisely. Thumb sucking habit might be a manner of liberating the psychological tenseness among several children. Objective: The purpose of this study is to assess the prevalence of thumb sucking habit and its relation to the eruption of permanent teeth and IQ among children aged 6-7 years old. Subjects and methods: I

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