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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 2020
Journal Name
Annals Of Tropical Medicine And Public Health
The impact of JAK2V617F allelic burden on clinical and laboratory parameters in patients with myeloproliferative neoplasms
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Publication Date
Tue Jan 09 2024
Journal Name
Nigerian Journal Of Parasitology
Toxoplasmosis and Metabolic Disorders among Children with Autism.
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Publication Date
Wed Jan 01 2020
Journal Name
Plant Archives
A novel finding of il-9 genetic polymorphism (rs17317275) and serum level in rheumatoid arthritis patients infected with CMV
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RA is a complex chronic disease, primarily affects the lining of the synovial joints and can cause progressive disability, premature death, and socioeconomic burdens. The clinical manifestations of symmetrical joint involvement include arthralgia, swelling, redness, and even limiting the range of motion. The pathogenesis is not known therefore the study included Rheumatoid arthritis (RA) is one of systemic inflammatory diseases that characterized by a progressive disabling course. The study included patients suffering from RA and as healthy controls. immunological and genetic factor were evaluated in each subject by using serum level of cytokine and genetic factor. The etiopathology of the disease is not well known for this reason the study

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Publication Date
Mon Jan 01 2018
Journal Name
Research Journal Of Pharmacy And Technology
Molecular Genetic variability in the D-loop region for females with Breast Cancer and the effect of the Chemotherapy
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Publication Date
Tue Apr 26 2011
Journal Name
Evolutionary Algorithms
Variants of Hybrid Genetic Algorithms for Optimizing Likelihood ARMA Model Function and Many of Problems
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Publication Date
Mon Jul 05 2010
Journal Name
Evolutionary Algorithms
Variants of Hybrid Genetic Algorithms for Optimizing Likelihood ARMA Model Function and Many of Problems
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Optimization is essentially the art, science and mathematics of choosing the best among a given set of finite or infinite alternatives. Though currently optimization is an interdisciplinary subject cutting through the boundaries of mathematics, economics, engineering, natural sciences, and many other fields of human Endeavour it had its root in antiquity. In modern day language the problem mathematically is as follows - Among all closed curves of a given length find the one that closes maximum area. This is called the Isoperimetric problem. This problem is now mentioned in a regular fashion in any course in the Calculus of Variations. However, most problems of antiquity came from geometry and since there were no general methods to solve suc

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Publication Date
Fri Feb 26 2021
Journal Name
Iraqi Journal Of Science
Antibacterial Susceptibility of Clinical Isolates of Klebsiella pneumoniae in Nigeria to Carbapenems
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The emergent bacterial resistance to antibiotics, most especially Carbapenems, has become a common phenomenon. The aim of the recent study was the observation and evaluation of the antibacterial susceptibility of Klebsiella pneumoniae in clinical specimens to different Carbapenems. One hundred isolates of K. pneumoniae isolated from different clinical sites, such as leg, caesarean section (CS), head, buttock, breast, thigh, and arm were tested. Using disc diffusion method, the isolates were tested for susceptibility to different antibiotics including Tobramycin, Ciprofloxacin, Aztreonam, Colistin sulphate, Ceftriaxone, Cefepime, Cefoxitin, Ceftazidime, Ertapenem, Meropenem, and Imipenem. The results were interpreted acc

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Publication Date
Fri Jan 15 2021
Journal Name
Plant Archives
EFFECT OF PRODIGIOSIN ON BIOFILM FORMATION IN CLINICAL ISOLATES OF PSEUDOMONAS AERUGINOSA
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Publication Date
Thu Oct 01 2020
Journal Name
Iraqi Journal Of Biotechnology,
Isolation and Identification of Multidrug Resistance Among Clinical and Environmental Pseudomonas aeruginosa Isolates
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Pseudomonas aeruginosa is the most common opportunistic pathogen causing morbidity and mortality in hospitalized patients due to its multiple resistance mechanisms. Therefore, as a therapeutic option becomes restricted, the search for a new agent is a preference. So P. aeruginosa is an extremely versatile Gram-negative bacterium capable of thriving in a broad spectrum of environments, and this performs main problems to workers in the field of health. One hundred and fifty samples were collected from different sources from Baghdad hospitals, divided into two main groups: clinical (100) specimens and (50) samples as an environmental, collected from October 2019 to the March 2020. All of these samples were cultured by specific and differential

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Publication Date
Thu Jan 15 2009
Journal Name
Thesis
Infantile Gastroenteritis Multifactorial Disease
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Total no. of patient (100) stool samples were collected, during the period from February to the end of May of 2008, for children under two years old suffering from non-bloody and bloody diarrhea at (Children Welfare Teaching Hospital) in Baghdad. The study evaluates the relationship between etiological agent of diarrhea and sex, age group, type of feeding, presence of blood in stool of the patients. All samples were examined microscopically to identify parasitic agent and serological test for Rotavirus to identify viral infection, also biochemical and serological tested for specimen's culture on different culture media and antibiotic sensitivity test. Results show from 100 cases 64] represents the etiological agent of diarrhea and

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