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GRhJEJUBVTCNdQwCKCV0
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
Mon Jun 11 2018
Journal Name
Internationaljournalofresearchinpharmaceuticalsciences
Treatment satisfaction with disease-modifying therapy in relapsing-remit-tingmultiple sclerosis in Iraq
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Multiplesclerosis(MS)isachronic,inflammatory,immune-mediateddiseaseof the central nervous system (CNS). More than 2 million people worldwidehave MS. The goal of the present study was to compare Iraqi patients' treat-ment satisfaction with three different disease-modifying therapies (DMTs),administeredorally,subcutaneously,andbyslowinfusion;namely,fin-golimod, interferon beta-1b (IFNβ-1b), and natalizumab, respectively. Aswell as to assess the individual differences among these therapies about theireffectiveness, convenience and global satisfaction also to assess the role ofcertain predictors on treatment satisfaction. Patient satisfaction with medi-cation assessed by the Treatment Satisfaction Questi

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Publication Date
Wed Apr 20 2011
Journal Name
Journal Of Al-qadisiyah For Computer Science And Mathematics
Chaos in a harvested prey-predator model with infectious disease in the prey
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A harvested prey-predator model with infectious disease in preyis investigated. It is assumed that the predator feeds on the infected prey only according to Holling type-II functional response. The existence, uniqueness and boundedness of the solution of the model are investigated. The local stability analysis of the harvested prey-predator model is carried out. The necessary and sufficient conditions for the persistence of the model are also obtained. Finally, the global dynamics of this model is investigated analytically as well as numerically. It is observed that, the model have different types of dynamical behaviors including chaos.

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Publication Date
Sun Sep 01 2024
Journal Name
Baghdad Science Journal
Isolation and Identification of Flavonoid Compounds from Euphorbia Milii Plant Cultivated in Iraq and Evaluation of its Genetic Effects on Two Types of Cancer Cell Line
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يعتبر "تاج الأشواك" أو نبات شوكة المسيح، وهو من نباتات الزينة الطبية ، ينتمي إلى جنس يوفوربيا. E. milii يحتوي كميات وفيرة من المركبات الفينولية ، التربينات، الستيرويدات والقلويدات. كانت الأهداف الرئيسية لهذه الدراسة هي فحص مستخلصات الفلافونويد والنانو فلافونويد ضد نوعين من خطوط الخلايا السرطانية. تم تصنيع مركبات الفلافونويد النانوية عن طريق تفاعل مركب الكيتوسان والماليك اسد. تم تحليل مركبات الفلافونويد ال

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Publication Date
Fri Aug 01 2008
Journal Name
2008 First International Conference On The Applications Of Digital Information And Web Technologies (icadiwt)
Hybrid canonical genetic algorithm and steepest descent algorithm for optimizing likelihood estimators of ARMA (1, 1) model
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This paper presents a hybrid genetic algorithm (hGA) for optimizing the maximum likelihood function ln(L(phi(1),theta(1)))of the mixed model ARMA(1,1). The presented hybrid genetic algorithm (hGA) couples two processes: the canonical genetic algorithm (cGA) composed of three main steps: selection, local recombination and mutation, with the local search algorithm represent by steepest descent algorithm (sDA) which is defined by three basic parameters: frequency, probability, and number of local search iterations. The experimental design is based on simulating the cGA, hGA, and sDA algorithms with different values of model parameters, and sample size(n). The study contains comparison among these algorithms depending on MSE value. One can conc

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Publication Date
Thu Sep 01 2022
Journal Name
Human Gene
Tissue inhibitor of metalloproteinase-1 (TIMP-1) serum level and genetic polymorphisms associated with cutaneous leishmania infections
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Introduction: Cutaneous leishmaniasis is considered a parasitic contagion resulting from the flagellated parasite belonging to the genus of Leishmania. Also, cutaneous leishmaniasis is a zoonotic ailment transmitted through the bloodsucking sand-flies bite (belonging to the Phlebotomus genus). The disease's reservoirs included wild or semi-domesticated animals, in general rodents and dogs. Tissue inhibitor metalloproteinase-1 (TIMP-1) is one of the extracellular matrix proteins that have a role in vessel wall degeneration and aneurysm development. In addition, it belongs to the zinc-dependent endopeptidases family that are involved in the degradation of connective tissues proteins which are included in vascular integrity maintenance. The Ge

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Publication Date
Fri Dec 20 2024
Journal Name
Iraqi Journal Of Pharmaceutical Sciences
Genetic Polymorphisms at TNF-Alpha Receptors Associated some Autoimmune Diseases and Response of Anti-TNF Biologics: Review
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Some genetic factors are not only involved in some autoimmune diseases but also interfere with their treatment, Such as Crohn's disease (CD), Rheumatoid Arthritis (RA), ankylosing spondylitis (AS), and psoriasis (PS). Tumor Necrosis Factor (TNF) is a most important pro-inflammatory cytokine, which has been recognized as a main factor that participates in the pathogenesis and development of autoimmune disorders. Therefore, TNF could be a prospective target for treating these disorders, and many anti-TNF were developed to treat these disorders. Although the high efficacy of many anti-TNF biologic medications, the Patients' clinical responses to the autoimmune treatment showed significant heterogeneity. Two types of TNF receptor (TNFR); 1 an

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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
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
Thu Feb 01 2018
Journal Name
European Journal Of General Medicine
The Value of Longitudinal Strain versus Coronary Angiography in Detection of Coronary Artery Disease
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Aims: The aim of this study was to evaluate the value and accuracy of longitudinal strain in detection of coronary artery disease compared to coronary angiography. Results: The left ventricular longitudinal strain-speckle tracking showed evidence of stenosis of left anterior descending artery, circumflex artery and right coronary artery in (86.1%), (76.4%), and (84.7%) respectively. For the stenosis in left anterior descending artery, the current study showed that the longitudinal strain was a good predictor for presence of significant stenosis with a sensitivity of (93.8%), specificity (75%) and accuracy (91.7%) compared with coronary angiography. For the stenosis in right coronary artery, the left ventricular longitudinal strain had

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Publication Date
Thu Aug 18 2022
Journal Name
Journal Of Interdisciplinary Mathematics
The dynamics of Coronavirus pandemic disease model in the existence of a curfew strategy
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