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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
Mon Jan 01 2018
Journal Name
Complexity
Complexity Measures for Quantifying Changes in Electroencephalogram in Alzheimer’s Disease
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Alzheimer’s disease (AD) is a progressive disorder that affects cognitive brain functions and starts many years before its clinical manifestations. A biomarker that provides a quantitative measure of changes in the brain due to AD in the early stages would be useful for early diagnosis of AD, but this would involve dealing with large numbers of people because up to 50% of dementia sufferers do not receive formal diagnosis. Thus, there is a need for accurate, low-cost, and easy to use biomarkers that could be used to detect AD in its early stages. Potentially, electroencephalogram (EEG) based biomarkers can play a vital role in early diagnosis of AD as they can fulfill these needs. This is a cross-sectional study that aims to demon

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Publication Date
Tue Feb 25 2025
Journal Name
Journal Of Baghdad College Of Dentistry
Oral manifestation biochemical and IgA analysis of saliva in hyperthyroid (Grave’s disease) patients(Comparative study)
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Background: Hyperthyroidism occurs due to over production of thyroid hormones, one types of hyperthyroidism was Graves, disease. Hyperthyroidism is characterized by high level of serum thyroxin, triiodothyronine and low level of thyroid stimulated hormones. Material and Methods: fifty two hyperthyroid patients, thirty patients under treatment with carbimazole and other twenty two patients under treatment with radioactive iodine, and sixty healthy control group. The average salivary flow rate was calculated as ml/5mint.The concentration of calcium, potassium, and total protein were determined in the salivary supernatant sample. This is done through different biochemical tests. Determination of salivary IgA is done by ELIZA. Results: The most

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Publication Date
Tue Dec 11 2018
Journal Name
Iraqi National Journal Of Nursing Specialties
Disease Patterns and outcomes of Neonatal Admissions at Raparin Pediatric Teaching Hospital in Erbil City
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Objectives: This study aims to determine the disease’s patterns and outcomes of admission among neonates hospitalized at the neonatal care unit in Erbil City, and using the findings as a baseline for neonate’s morbidity and mortality assessment in the future. Methodology: A retrospective study carried out at neonatal care unit of Raparin pediatric teaching hospital. An instrument for data collection developed by researcher included (age, gender, cause of admission, diagnosis and outcome upon discharge and causes of death). Content validity of the instrument was determined through the use of panel ex

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Publication Date
Thu May 28 2020
Journal Name
Iraqi Journal Of Science
Evaluation of Serum Clusterin Levels in Type 2 Diabetic Men with and without Cardiovascular Disease
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Objectives: The objective of this study was to evaluate serum levels of clusterin (CLU) in type 2 diabetics with and without cardiovascular disease and to explore possible correlations with insulin resistance and related progression of cardiovascular disease in Iraqi men.

Methods: Sixty-three T2DM patients, including forty-two with cardiovascular disease (CVD), were divided into three subgroups; twenty-one with myocardial infraction (MI), twenty-one with other CVD, and twenty-one without any cardiac complication. In addition, a group of twenty-one men served as healthy controls (HCs) for comparison purposes. The four groups were analyzed for parameters that included fasting serum glucose (FSG), l

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Publication Date
Fri Nov 24 2023
Journal Name
Iraqi Journal Of Science
Modeling and Stability of Lotka-Volterra Prey-Predator System Involving Infectious Disease in Each Population
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In this paper, a mathematical model consisting of the prey- predator model with disease in both the population is proposed and analyzed. The existence, uniqueness and boundedness of the solution are discussed. The existences and the stability analysis of all possible equilibrium points are studied. Numerical simulation is carried out to investigate the global dynamical behavior of the system.

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Publication Date
Sun Apr 23 2017
Journal Name
Ibn Al-haitham Journal For Pure And Applied Sciences
Control of American Foul Brood Disease (AFB) in Honey Bee Using Thyme Extracts and Thymol
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 Ethanolic extracts of Thyme (Thymbra spicata) were tested for their inhibitory action on Paenibacillus larvae the causative agent of American foul brood with different concentration by using disc assay and mixed with culture media . Results showd that 3000mg / disc and 3000 mg / ml was the effective concentroation for the both methods .Thymol was isolated by using TLC technique . The effective concentration of thymol on growth of bacteria was 1000 mg / disc .          Thymol and crude extracts of thyme 3000 mg / ml were tested on infected hives by mixed with sugar  solution . The symptoms of AFB disease was full disappearance within 21 , 27 days after treatment with thymol and thyme

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Publication Date
Tue Mar 14 2023
Journal Name
Iraqi Journal Of Science
On the Dynamics of Prey-Predator Model Involving Treatment and Infections Disease in Prey Population
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In this paper, a mathematical model consisting of the prey- predator model with treatment and disease infection in prey population is proposed and analyzed. The existence, uniqueness and boundedness of the solution are discussed. The stability analyses of all possible equilibrium points are studied. Numerical simulation is carried out to investigate the global dynamical behavior of the system.

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Publication Date
Thu Jul 01 2021
Journal Name
Mustansiriya Medical Journal
Evaluation of some biomarkers in diagnosis of bacterial bloodstream infection in children
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Background Bloodstream infection (BSI) is a life-threatening condition caused by the presence of microorganisms, generally caused by a range of bacteria in the blood. Objectives The aim of this study was to evaluate the possible role of procalcitonin (PCT) and C-reactive protein (CRP) as biomarkers of pediatric BSI. Methodology The study was conducted on 150 blood samples collected from the patient who admitted to Children Welfare Teaching Hospital, Medical City, Baghdad. During the period from November 2020 to March 2021, ninety blood samples from them were positive culture and 60 blood samples were negative culture (control group). The isolates were identified depending on the morphological, microscopic examination, and biochemical tests.

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Publication Date
Tue Jan 01 2019
Journal Name
Annals Of Medicine And Surgery
The prevalence and correlation between subclinical hypothyroidism and gall stone disease in Baghdad teaching hospital
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Publication Date
Fri Sep 01 2017
Journal Name
International Journal Of Science And Research (ijsr)
Favism Clinical Experience in Al-Elwia Pediatric Teaching Hospital in Iraq
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