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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
Sun Feb 25 2024
Journal Name
Baghdad Science Journal
Facial Emotion Images Recognition Based On Binarized Genetic Algorithm-Random Forest
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Most recognition system of human facial emotions are assessed solely on accuracy, even if other performance criteria are also thought to be important in the evaluation process such as sensitivity, precision, F-measure, and G-mean. Moreover, the most common problem that must be resolved in face emotion recognition systems is the feature extraction methods, which is comparable to traditional manual feature extraction methods. This traditional method is not able to extract features efficiently. In other words, there are redundant amount of features which are considered not significant, which affect the classification performance. In this work, a new system to recognize human facial emotions from images is proposed. The HOG (Histograms of Or

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Publication Date
Fri May 01 2015
Journal Name
Journal Of Engineering
A Real-Coded Genetic Algorithm with System Reduction and Restoration for Rapid and Reliable Power Flow Solution of Power Systems
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The paper presents a highly accurate power flow solution, reducing the possibility of ending at local minima, by using Real-Coded Genetic Algorithm (RCGA) with system reduction and restoration. The proposed method (RCGA) is modified to reduce the total computing time by reducing the system in size to that of the generator buses, which, for any realistic system, will be smaller in number, and the load buses are eliminated. Then solving the power flow problem for the generator buses only by real-coded GA to calculate the voltage phase angles, whereas the voltage magnitudes are specified resulted in reduced computation time for the solution. Then the system is restored by calculating the voltages of the load buses in terms

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Publication Date
Mon Oct 19 2026
Journal Name
Journal Of Baghdad College Of Dentistry
Oral health status, dental knowledge and behaviors among children and adolescents (8-15) years old in the cities of Baghdad and Thamar
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Background: Investigating dental health knowledge among children is important. Knowing what behaviors are right in relation to dental health does not guarantee that children will practice those behaviors. However, lack of knowledge and misconceptions about dental health may lead to behaviors that are harmful to teeth and gum. Baseline data on knowledge levels are required to determine which particular areas of dental health education are in need of improvement for high-risk children living in different geographical areas. This research was conducted to study the oral health status, dental knowledge and behavior in relation to two different cities, among children in Baghdad and Thamar (republic of Yemen) governorate. Materia

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Publication Date
Sat Jun 30 2018
Journal Name
Iraqi Journal Of Medical Sciences
CLINICAL UTILITY OF URINARY ANTIGEN TEST AND MOLECULAR METHOD FOR DETECTION OF LEGIONELLA PNEUMOPHILA
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Background: Legionella pneumophila (L. pneumophila) is gram-negative bacterium, which causes Legionnaires’ disease as well as Pontiac fever. Objective: To determine the frequency of Legionella pneumophila in pneumonic patients, to determine the clinical utility of diagnosing Legionella pneumonia by urinary antigen testing (LPUAT) in terms of sensitivity and specificity, to compares the results obtained from patients by urinary antigen test with q Real Time PCR (RT PCR) using serum samples and to determine the frequency of serogroup 1 and other serogroups of L. pneumophila. Methods: A total of 100 pneumonic patients (community acquired pneumonia) were enrolled in this study during a period between October 2016 to April 2017; 92 sam

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Publication Date
Tue Jan 03 2017
Journal Name
World Journal Of Experimental Biosciences
Effect of Soil Extracts on Ability of Clinical Isolates of Pseudomonas aeruginosa and Staphylococcus aureus to Produce Biofilm in vitro
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In present study the effect of soil extracts of different types of soil on ability of two clinical isolates, Pseudomonas aeruginosa and Staphylococcus aureus to form biofilm. The extract of soil was done by using sterile phosphate buffer saline and analyzed by Fourier Transform Infrared Spectroscopic (FTIR). Spectrophotometric method was used to check ability of the studied isolated bacteria to form biofilm on polystyrene microtiter plates. The data of FTIR showed very little difference was observed among extracts of three types of soil (soil contaminated with hydrocarbons; garden soil collected from gardens of al-jadrea, Baghdad and containers soil), but the highest difference was observed in the extract obtained from peat moss clay soil.

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Publication Date
Fri Nov 09 2018
Journal Name
Iraqi National Journal Of Nursing Specialties
Evaluation of Anemia among Lactating Mothers and their Children Under Two Years of Age
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Objective: The aim of this study is to evaluate anemia among lactating women and their children less than 2 years of
age.
Methodology: The study was done on (148) lactating mothers and their children under 2 years of age in the primary
health care center at AL-Salam Quarter/Baghdad from l/10/2009 to 15/10/2010.
Result: This study recommends that there is a significant relationship between anemic mothers and their children. The
study also revealed that there is (77.8%) from nursing mothers in the age groups (25-29) who suffered from anemia,
while (23.1%) for the age group (20-24) did not have anemia
Recommendation: We encourage the use of breast milk or iron-fortified infant formula only for any milk-based part
of

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Publication Date
Wed Jan 01 2020
Journal Name
Iraqi Journal Of Veterinary Sciences
Incidence of cutaneous and subcutaneous tumors of dogs from Baghdad city: Clinical, cytological and histopathological features
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The present study was conducted to estimate the incidence, clinical findings, cytological and histopathological characteristics of spontaneously occurring skin neoplasms in dogs. A total of 40 grossly suspected cases of cutaneous and subcutaneous tumors were gathered during the period from July 2016 to August 2018 from male and female dogs in Baghdad city. Dogs with skin neoplasia revealed various clinical signs, and their ages were older than 5 years to 15 years. German shepherd 30% followed by Terrier dogs 25% were more influenced than other breeds. Concerning tumor features, the majority of neoplasms had solitary lesion 70%, regular shapes 65% with black color 55%. The tumors frequently occurred on fore-limbs and abdomen, and 80% of them

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Publication Date
Sun Nov 01 2015
Journal Name
Journal Of Natural Sciences Research
Genetic Study for G-Protein Coupled Receptor from Saccharomyces Cerervisiae and From Sera of Patients with Heart Thrombosis
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Aim of the present study is Identification of specific gene for GPCR using specific primers .and identification of difference in PCR analysis in patients with heart thrombosis and compared with healthy, Sequencing of PCR product regarding GPCR compared for all three subject, Identification the similarity of human GPCR with local strain of yeast fifty healthy control and fifty patients with thrombosis which diagnosed medically with cardiac specific troponin t, troponin 1 levels and electro myocardiogram ECG. The aged for all subjects ranged (39-75) years patients were lying in cardiac care unit at Ibn- al- Nafees teaching hospital and Sheikh Zayed teaching hospital. Genomic DNA of whole blood was extracted from buffy coat and cell cu

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Publication Date
Fri Oct 06 2023
Journal Name
Journal Of The Pakistan Medical Association
The role of Tumour Necrosis Factor Alpha (TNF-ALPHA) serum level and genetic polymorphisms with cutaneous leishmania infections
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Objective: To assess the role of tumour necrosis factor alpha level and genotyping in susceptibility to leishmaniasis.Method: The case-control study was conducted from March to July 2021 at Baqubah Teaching Hospital, Diyala, Iraq,and comprised patients of cutaneous leishmaniasis in group A and healthy controls in group B. The serum level andsingle nucleotide polymorphisms of tumour necrosis factor-alpha rs41297589 and rs1800629 were compared betweenthe groups. Data was analysed using SPSS 28.Results: Of the 150 subjects, there were 75(50%) in group A; 39(52%) males and 36(48%) females with mean age23.91±13.14 years. The remaining 75(50%) subjects were in group B; 38(50.7%) males and 37(49.3%) females withmean age 22.84±4.35 years.

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Publication Date
Thu Sep 01 2022
Journal Name
Prepodavatel Xxi Vek
Metaphor and Genre of Family Chronicle (On the Example of L. Ulickaya’s "Medea and Her Children”)
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The article deals with the role of metaphors in forming the plot of L. Ulitskaya’s family chronicle “Medea and Her Children”. The author of the article describes the results of the next stage of research related to the works of Lyudmila Evgenievna Ulitskaya, a representative of modern Russian prose. The analysis of tropes and figures in the works written at the turn of the XXth – XXIth centuries is of importance for the study of the modern state of Russian language as an independent system. “Medea and Her Children” is one of the works by L. Ulitskaya (written in 1996), which, like her other works, is characterized by a unique style of narration, rich in vocabulary, lexical, semantic and stylistic diversity of the author’s word

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