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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 03 2024
Journal Name
Al-rafidain Journal Of Medical Sciences ( Issn 2789-3219 )
Assessment of Adherence and Self-Efficacy in a Sample of Iraqi Patients Receiving Warfarin or Direct Oral Anticoagulants
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Background: While warfarin and direct oral anticoagulants (DOACs) are used to manage thromboembolic events, they possess several features that impact adherence. Objective: To assess medication adherence and self-efficacy in patients receiving warfarin or DOAC treatment. Methods: A cross-sectional study was performed at Ibn Al-Bitar Hospital in Baghdad from December 2022 to May 2023 on patients receiving either warfarin or DOACs. The Arabic version of the Adherence to Refills and Medications Scale (ARMS) questionnaire and the Self-Efficacy for Managing Chronic Disease 6-Item Scale (SES6C) questionnaire were used to assess adherence and self-efficacy. Results: 181 patients were enrolled in the study, of whom 56.9% received warfarin an

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Publication Date
Thu Sep 01 2022
Journal Name
Human Gene
Association of CTLA-4 (+49A/G) polymorphism and susceptibility of developing rheumatoid arthritis in an Iraqi Arab population
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Background: The gene responsible for encoding the protein of cytotoxic T lymphocyte-associated antigen-4 (CTLA-4) has been found to be associated with rheumatoid arthritis (RA) in different ethnic populations. But the association of +49A/G CTLA-4 polymorphism with susceptibility of RA among Iraqi Arab populations has not yet been determined. Methods: One hundred and seventy-eight patients were examined, 67 of them were males (mean age 54.71 ± 10.4 years), while 167 were examined for the control group, of whom 64 were males and the rest were females. CTLA-4 DNA genotyping was carried on to determine the +49 A/G (rs231775) polymorphism using a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Enzyme-linked immuno

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Publication Date
Sat Feb 01 2020
Journal Name
Journal Of Global Pharma Technology,
Doppler study and cell free DNA biomarkers by using PCR in hypertensive and diabetic pregnant iraqi women
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Publication Date
Thu Apr 27 2023
Journal Name
Journal Of The Faculty Of Medicine Baghdad
Total L-carnitine and insulin resistance in non-obese and obese Iraqi women with polycystic ovary syndrome
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Background: Polycystic ovary syndrome (PCOS) is one of the most frequent endocrine illnesses affecting reproductive - age women. L-carnitine has important roles in oxidative stress, energy production and glucose metabolism. It affects insulin resistance as decreased plasma carnitine level has been well reported in type II diabetes mellitus. Hence, it means L-carnitine may reduce insulin resistance which is found in PCO disease. Objective: This study aims to measure the level of L-carnitine and insulin resistance in both obese and non- obese patients with PCOS. Patients and Methods: Sixty women within the reproductive age with PCOS (30 obese and 30 non- obese) were recruited from the Gynecology and Obstetrics Outpatient Clinic in Baghdad T

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Publication Date
Fri Sep 01 2017
Journal Name
International Journal Of Science And Research
Analysis of Correlation between Mesiodistal width of the Maxillary and Mandibular Anterior and Posterior Teeth for Both Genders in Iraqi Population
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Abstract: Choosing suitable artificial teeth for partially edentulous patients and arranging these teeth in a way to look natural is difficult. An important factor in dentures construction is the mesiodistal width of anterior teeth, because a denture would not appearance natural if artificial teeth are of incorrect size. While for a successful orthodontic treatment, mesiodeistal width of teeth is important for space analysis and for establishing proper occlusion. The aim of this study is to determine the correlation between the average mesiodistal width of anterior and posterior teeth in male and female Iraqi population. 40 Iraqi subjects with normal occlusion participated in this study. Mesiodistal measurement of all teeth was carried out

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Publication Date
Tue Jan 01 2019
Journal Name
Indian Journal Of Public Health Research &amp; Development
Predictive Value of Spectral Waveform Indices; Intimal Medial Thickness and Lumen Diameter of Carotid Artery in Iraqi Diabetic and Hypertensive Patients
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Background: Diabetes and hypertension are related to cardiovascular risk factors and are possible to detect development of atherosclerosis in cardiovascular system, were can predict their effect and measurement by ultrasound and Doppler study. These risk factors included increased intima-media thickness, resistive index (RI) and pulsatility index (PI) of the right common carotid arteries. Method: We studied 20 patients with diabetes and hypertension, and 20 patients with diabetes only, were examine right carotid arteries for these two groups. In this sample we studied the Lumen diameter of the Rt. carotid arteries, Intima – media thickness (IMT), peak systolic velocity, end diastolic velocity, and Pulsatility index, Resistance index were

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Publication Date
Mon Jan 02 2017
Journal Name
Al-academy
The semiology of culture and the sign variable in a theatre performance: Iraqi theatre as an example
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The culture of theatre performance has a vital role in the process of reading the linguistic and visual signs of the performance. And the process of transforming a theatre performance from its original context into a new hosting cultural context starts from the actual reading of the text. Directors derives their new signs out of his personal culture, depending on the society where they lives and the culture that forms the social conventions, traditions and beliefs. The text is usually written within its own historical and temporal culture. The process of its production usually takes it away from its original culture, when it interprets the codes of the original writer and their visual and linguistic signs and instils new alternative sign

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Publication Date
Mon Nov 30 2020
Journal Name
Journal Of Economics And Administrative Sciences
Building a model to reduce the cost of hajj in the Iraqi Authority for Hajj and Umrah
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The research is summarized in the construction of a mathematical model using the most common methods in the science of Operations Research, which are the models of transportation and linear programming to find the best solution to the problem of the high cost of hajj in Iraq, and this is done by reaching the optimum number of pilgrims traveling through both land ports and the number Ideal for passengers traveling through airports by Iraqi Airways, instead of relying on the personal experience of the decision-maker in Hajj and Umrah Authority by identifying the best port for pilgrim's travel, which can tolerate right or wrong, has been based on scientific methods of Operations Research, the researcher built two mathematical models

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Publication Date
Thu Oct 01 2015
Journal Name
Journal Of The Faculty Of Medicine Baghdad
Effect of 1,3-Oxazepine Derivative on Alkaline Phosphatase and Lactate Dehydrogenase Activity in Healthy Iraqi Females Serum
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Background: Heterocyclic compounds and its derivatives have biological activities and used as analgesic, anti-helminthic, antituberculer, antifungal, antiviral, anticancer and inhibitor of some enzymes. Oxazepine (benzodiazepine) derivative used in relief of psychoneuroses characterized by anxiety and tension. Alkaline phosphatase (ALP) hydrolyzes phosphate monoesters, while Lactate dehydrogenase (LDH) catalyses oxidation of L-lactate to pyruvate utilizing NAD+Objective: The study was carried out to know of the impact of 1,3-oxazepine derivative on the ALP and LDH enzyme activity on human serum in vitro.Methods: The study included the effect of synthesized 1,3-oxazepine divertive [(Z)-3-(5-mercapto-1-3,4-Thiadizol-2-yl)-2-(4-nitroph

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Publication Date
Mon Jun 01 2015
Journal Name
Journal Of The College Of Languages (jcl)
An Analysis of Textual Themes in M.A Theses and Ph. D. Dissertations Written by Iraqi EFL Learners
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The present study investigates the realization and significance of textual themes in the organizational structure of M.A theses and Ph.D. dissertations, namely: the abstracts, introductions and conclusions, since in such parts the students depend on their own expressions, styles and constructions to express different viewpoints, plans, inferences, etc. The study also investigates the similarities and differences between M.A theses and Ph.D. dissertations concerning the use of textual themes;it sets out to conduct a detailed analysis of textual themes used in such texts. In conducting such an analysis, the study adopts Halliday's (1994) approach of textual themes. The results of such an analysis have clearly shown that, in spite of the di

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