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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
Sun Jul 06 2025
Journal Name
Jordan Medical Journal
Enhancing Adherence and Satisfaction with Disease-Modifying Therapies in Multiple Sclerosis Through Pharmacist-Led Interventions: Interventional Study
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Background: Pharmacists are essential in treating MS. Pharmacists' involvement and patient consultation may improve patient adherence and satisfaction. Aim: To evaluate the influence of pharmacist-led interventions (PLI) on medication adherence and satisfaction in patients with multiple sclerosis receiving disease-modifying therapies (DMTs). Methods: This study was conducted on patients with relapsing-remitting multiple sclerosis who were receiving DMTs and attended a neurological consultant clinic in the medical city of Baghdad. It was a pre-post-intervention study. Each patient underwent two educational sessions: the first session took place at the beginning of the study, after completing the Arabic version of the treatment satisfaction q

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Publication Date
Thu Jun 26 2025
Journal Name
Plos One
Neurologists’ perspectives on management challenges and mitigation strategies for Parkinson’s disease patients: A qualitative study in Iraq
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Background Parkinson’s disease (PD) is currently the fastest-growing neurological disorder in the world. Patients with PD face numerous challenges in managing their chronic condition, particularly in countries with scarce healthcare infrastructure. Objective This qualitative study aimed to delve into neurologists’ perspectives on challenges and gaps in the Iraqi healthcare system that influence the management of PD, as well as strategies to mitigate these obstacles. Method Semi-structured interviews were conducted with neurologists from five different Iraqi provinces, working in both hospitals and private neurology clinics, between November 2024 and January 2025. A thematic analysis approach was employed to identify the main challenge

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Publication Date
Sun Nov 01 2015
Journal Name
Journal Of Natural Sciences Research
Genetic Study for G-Protein Coupled Receptor from Saccharomyces Cerervisiae and From Sera of Patients with Heart Thrombosis
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Aim of the present study is Identification of specific gene for GPCR using specific primers .and identification of difference in PCR analysis in patients with heart thrombosis and compared with healthy, Sequencing of PCR product regarding GPCR compared for all three subject, Identification the similarity of human GPCR with local strain of yeast fifty healthy control and fifty patients with thrombosis which diagnosed medically with cardiac specific troponin t, troponin 1 levels and electro myocardiogram ECG. The aged for all subjects ranged (39-75) years patients were lying in cardiac care unit at Ibn- al- Nafees teaching hospital and Sheikh Zayed teaching hospital. Genomic DNA of whole blood was extracted from buffy coat and cell cu

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Publication Date
Fri Oct 06 2023
Journal Name
Journal Of The Pakistan Medical Association
The role of Tumour Necrosis Factor Alpha (TNF-ALPHA) serum level and genetic polymorphisms with cutaneous leishmania infections
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Objective: To assess the role of tumour necrosis factor alpha level and genotyping in susceptibility to leishmaniasis.Method: The case-control study was conducted from March to July 2021 at Baqubah Teaching Hospital, Diyala, Iraq,and comprised patients of cutaneous leishmaniasis in group A and healthy controls in group B. The serum level andsingle nucleotide polymorphisms of tumour necrosis factor-alpha rs41297589 and rs1800629 were compared betweenthe groups. Data was analysed using SPSS 28.Results: Of the 150 subjects, there were 75(50%) in group A; 39(52%) males and 36(48%) females with mean age23.91±13.14 years. The remaining 75(50%) subjects were in group B; 38(50.7%) males and 37(49.3%) females withmean age 22.84±4.35 years.

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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
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
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
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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Publication Date
Mon Mar 01 2021
Journal Name
Al-khwarizmi Engineering Journal
Hurst Exponent and Tsallis Entropy Markers for Epileptic Detection from Children
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The aim of the present study was to distinguish between healthy children and those with epilepsy by electroencephalography (EEG). Two biomarkers including Hurst exponents (H) and Tsallis entropy (TE) were used to investigate the background activity of EEG of 10 healthy children and 10 with epilepsy. EEG artifacts were removed using Savitzky-Golay (SG) filter. As it hypothesize, there was a significant changes in irregularity and complexity in epileptic EEG in comparison with healthy control subjects using t-test (p< 0.05). The increasing in complexity changes were observed in H and TE results of epileptic subjects make them suggested EEG biomarker associated with epilepsy and a reliable tool for detection and identification of this di

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Publication Date
Wed Mar 10 2021
Journal Name
Baghdad Science Journal
Study to modify the fat cow's milk for children and infants
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This study Ajert to modify the chemical composition of milk fat cows and make it similar to the installation of milk fat mother through the addition of protein and soybean oil to be given Alkhltatnsp sensory protein that the best plan is the ratio of 1:1

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