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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 Aug 01 2016
Journal Name
2016 38th Annual International Conference Of The Ieee Engineering In Medicine And Biology Society (embc)
Changes in the EEG amplitude as a biomarker for early detection of Alzheimer's disease
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The rapid increase in the number of older people with Alzheimer's disease (AD) and other forms of dementia represents one of the major challenges to the health and social care systems. Early detection of AD makes it possible for patients to access appropriate services and to benefit from new treatments and therapies, as and when they become available. The onset of AD starts many years before the clinical symptoms become clear. A biomarker that can measure the brain changes in this period would be useful for early diagnosis of AD. Potentially, the electroencephalogram (EEG) can play a valuable role in early detection of AD. Damage in the brain due to AD leads to changes in the information processing activity of the brain and the EEG which ca

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Publication Date
Fri Oct 20 2023
Journal Name
Ibn Al-haitham Journal For Pure And Applied Sciences
Effect of Some Demographic Changes on Some Oral Immune Aspects in Periodontal Disease Patients
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Periodontal diseases (PD) are worldwide diseases of humans either in childhood or adults. The present study aimed to find the correlation between some demographic and saliva immunological factors including the determination of saliva TLR-2, IL6, CRP, and α- amylase in patients with periodontal diseases. For this purpose, 60 patients out of which 33were males and 27 were females participated in this study from different Dental treatment Centers (Amirya Specialized Dental Center and Almaamon Specialized Dental Center ) in Baghdad/ Iraq, for the period starting from November / 2021 to February / 2022. Both age ranges for patients and control are (13-70) years, and patients’ mean ages are 34.29±15.01. Additionally, the control speci

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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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Publication Date
Fri Aug 01 2025
Journal Name
Medicinal And Medical Chemistry
The Development in the Therapeutic Agents Used for Alzheimer Disease: A Review
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As the leading cause of dementia, Alzheimer's disease (AD) is among the most prevalent progressive neurodegenerative diseases globally. The primary indicators of Alzheimer's disease consist of progressive memory impairment together with intellectual decline. Dementia cases from Alzheimer's disease constitute 50-60% of the total, while projections show these numbers will increase from 55 to 151 million by 2050. The development and enhancement of innovative therapeutic agents represent an absolute necessity for treating this medical condition.In this review, we will focus on synthesizing new promising therapeutic agents by many researchers that may improve some of the drawbacks of available drugs that only gave supportive care to Alzheimer's

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Publication Date
Thu Jun 30 2016
Journal Name
Al-kindy College Medical Journal
Value of random urinary calcium to creatinine ratio in diagnosing hypercalciuria in children with nocturnal enuresis
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Background:Nocturnal Enuresis is a common problem affecting 20% of five years old children and up to 2% of adolescent and young adult. Although it is a self limiting benign condition, it has social and psychological impact on the child and his family. Many pathophysiological theories had been suggested, but none is confirmed. Hypercalciuria has been suggested to be associated with higher incidence of nocturnal enuresis. Objectives:The aim of our study to test the value of Ca/Cr ratio, on random urine sample, in diagnosing hypercalciuria in enuretic children. Type of study: Cross sectional study.Methods:Forty four enuretic children were enrolled in this study and forty five children without nocturnal enuresis were taken as control group.

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Publication Date
Tue Dec 19 2017
Journal Name
Al-khwarizmi Engineering Journal
Prediction of Reaction Kinetic of Al- Doura Heavy Naphtha Reforming Process Using Genetic Algorithm
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In this study, genetic algorithm was used to predict the reaction kinetics of Iraqi heavy naphtha catalytic reforming process located in Al-Doura refinery in Baghdad.  One-dimensional steady state model was derived to describe commercial catalytic reforming unit consisting of four catalytic reforming reactors in series process.

The experimental information (Reformate composition and output temperature) for each four reactors collected at different operating conditions was used to predict the parameters of the proposed kinetic model. The kinetic model involving 24 components, 1 to 11 carbon atoms for paraffins and 6 to 11 carbon atom for naphthenes and aromatics with 71 reactions. The pre-exponential Arrhenius constants and a

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Publication Date
Sat Mar 26 2022
Journal Name
Indian Journal Of Ecology
Assessment of Antimicrobial Resistance to Klebsiella pneumonia Isolated from Various Clinical Samples in Baghdad
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Klebsiella pneumoniae is a severe opportunistic strain of enteric bacteria that is a major cause of urinary tract infection and pneumonia. This study was conducted in Baghdad City during September 2020-November 2020 on 50 clinical samples of urine, vaginal, sputum, wound swabs, ear swabs, and burn swabs. strains were identified using the VITEK-2 compact system and tested in K. pneumoniae terms of susceptibility to various antimicrobial drugs by Kirby-Bauer test. The isolates were more predominant in the females (56%) compared to males (44%). The antibiotic resistance rate of varied among different isolated clinical sample sources. K. pneumoniae K. pneumoniae isolated from different clinical specimens differed with respect

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Publication Date
Thu Sep 15 2022
Journal Name
Journal Of Baghdad College Of Dentistry
12- months color stability of direct resin composite veneers in anterior teeth: Clinical trial
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Background: This clinical trial aims to evaluate the color changes of direct resin composite veneer (DCV) restorations based on spectrophotometric analysis of 4 different types of resin composites between the baseline immediately after polishing and after one year of follow-up. Materials and methods: 28 patients were assessed for eligibility for participation, aged between 18 and 38 years old, who indicated for DCV restorations in anterior maxillary teeth were considered for participation in this study. In total, 25 patients who met the inclusion criteria were selected (6 males and 19 females, mean age: 20.9 at the time of restoration placement), and 3 patients were excluded. Partic

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Publication Date
Tue Nov 01 2011
Journal Name
J Clin Exp Invest Www. Clinexpinvest. Org Vol
Oral zinc sulphate in treatment of patients with thallium poisoning: A clinical therapeutic trial
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KE Sharquie, KI Al-Hamdi, AA Noaimi, AA Al-Mohammadi, J Clin Exp Invest www. clinexpinvest. org Vol, 2011 - Cited by 1

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Publication Date
Mon Apr 01 2019
Journal Name
Journal Of Oral And Maxillofacial Surgery
Pain Reduction in Extensive Apical Surgery of the Anterior Maxilla: A Comparative Clinical Study
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Purpose: The purpose of this study was to compare the outcomes of 2 different anesthetic techniques (local infiltration vs infraorbital nerve block) for eliminating pain during apical surgeries that are associated with extensive periapical pathology in the anterior maxilla. Materials and Methods: Patients were randomly divided into 2 groups: patients in group I were anesthetized labially by local infiltration injections, whereas those in group II received a single infraorbital nerve block. Palatal injections were given for the 2 groups. Once the pain was initiated during surgery, the procedure was discontinued until profound anesthesia was secured. The studied variables were age, gender, onset of anesthesia, operative time, and intraoperati

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