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Acid sphingomyelinase deficiency: Phenotypic, biochemical, and molecular heterogeneity in a series of 47 Iraqi patients from a single center
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Objectives Acid sphingomyelinase deficiency (ASMD) is an inherited autosomal recessive disease caused by pathogenic variants in the sphingomyelin phosphodiesterase-1 (SMPD1) gene, which encodes acid sphingomyelinase (ASM). ASMD has 3 broad phenotypes (type A, type A/B, and type B) characterized by the age of onset, symptomatology, and the rapidity of disease progression. The diagnosis of ASMD can be delayed or missed because of the wide spectrum of severity and its variable manifestations. Analysis of genotype-phenotype correlations can help to determine ASMD disease type and inform management. Here, we describe the clinical presentation of 47 patients with ASMD referred to a single center in Iraq since 2007, whose diagnosis was confirmed by gene sequencing and ASM activity. Study design This was a retrospective observational cohort study of patients diagnosed with ASMD in Iraq. Results The cohort included 47 patients with ASMD. A positive family history and consanguinity were noted in 66% and 98% of these cases, respectively. Hepatosplenomegaly, anemia, and thrombocytopenia were present in 100%, 79%, and 44% of patients, respectively. Notably, dysmorphic features were observed in 23% of cases. Thirteen SMPD1 variants were present in this cohort, the most common of which were c.1556A > G (p.Tyr519Cys), c.740delG (p.Gly247Alafs*10), c.967A > C (p.Ser323Arg), and c.1267C > T (p.His423Tyr). Three of the variants identified were novel, specifically c.967A > C (p.Ser323Arg), c.1579A > G (p.Asn527Asp), and c.905C > T (p.Thr302Ile). Conclusions Physicians assessing infants and children who present with hepatosplenomegaly or anemia and dysmorphic features should have a high index of suspicion for ASMD, particularly in regions with high rates of consanguineous unions.

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Publication Date
Wed Jan 01 2025
Journal Name
Scripta Medica
Correlation between psoriasis severity and dyslipidaemia in Iraqi patients
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Background/Aim: Psoriasis is a persistent systemic disorder characterised by chronic inflammation and linked to multiple comorbidities, including arthritis, cardiometabolic disorders, obesity and hyperlipidaemia. Objective of this study was to identify the relationship of abnormal lipid profiles and psoriasis, as well as to pinpoint factors that correlate with disease severity. Methods: A cross-sectional study was carried out at the dermatology clinic over 6 months from the 1 August 2024 to the 1 February 2025. Patients aged 15 years and above with a diagnosis of psoriasis were enrolled. For each patient two sets of data were collected, demographical characteristics (age, sex, disease duration and the body mass index (BMI)) and the

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Publication Date
Fri Mar 01 2024
Journal Name
Baghdad Science Journal
A Comparison between Ericson's Formulae Results and Experimental Data Using New Formulae of Single Particle Level Density
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The partial level density PLD of pre-equilibrium reactions that are described by Ericson’s formula has been studied using different formulae of single particle level density . The parameter  was used from the equidistant spacing model (ESM) model and the non- equidistant spacing model (non-ESM) and another formula of  are derived from the relation between  and level density parameter . The formulae used to derive  are the Roher formula, Egidy formula, Yukawa formula, and Thomas –Fermi formula. The partial level density results that depend on  from the Thomas-Fermi formula show a good agreement with the experimental data.

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Publication Date
Thu Oct 25 2018
Journal Name
Al-kindy College Medical Journal
Prevalence and risk factors for hepatitis C virus in Beta thalassemic patients attending blood diseases center in Ibn- AL -Baladi Hospital, Baghdad
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Background: Thalassemias are a group of heterogeneous genetic disorders, in which the rate of production of hemoglobin is partially or completely suppressed due to reduced rate of synthesis of α or β- chain

Objectives: to estimate the prevalence of Hepatitis C infection among B thalassemia patients attending Ibn-AL-Baladi center of blood diseases in AL-Sader city, in AL-Resafa Quarter of Baghdad and to determine the possible risk factors.

Type of the study: Cross- sectional study.

Methods: A cross sectional study conducted on B Thalassemia patients attending the blood diseases center in Ibn-AL-Baladi hospital during the period from 1st

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Publication Date
Mon Dec 20 2021
Journal Name
Baghdad Science Journal
Generative Adversarial Network for Imitation Learning from Single Demonstration
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Imitation learning is an effective method for training an autonomous agent to accomplish a task by imitating expert behaviors in their demonstrations. However, traditional imitation learning methods require a large number of expert demonstrations in order to learn a complex behavior. Such a disadvantage has limited the potential of imitation learning in complex tasks where the expert demonstrations are not sufficient. In order to address the problem, we propose a Generative Adversarial Network-based model which is designed to learn optimal policies using only a single demonstration. The proposed model is evaluated on two simulated tasks in comparison with other methods. The results show that our proposed model is capable of completing co

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Publication Date
Tue Oct 01 2024
Journal Name
Journal Of Obstetrics Gynecology And Cancer Research
Comparison of Levels of Activin A and Follistatin in Ectopic Pregnancies and Missed Abortions Patients
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Publication Date
Tue Dec 30 2008
Journal Name
Iraqi Journal Of Chemical And Petroleum Engineering
Adsorption of BTX Aromatic from Reformate by 13X Molecular Sieve
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This work deals with separation of the aromatic hydrocarbons benzene, toluene, and xylene (BTX) from reformate. The separation was examined using adsorption by molecular sieve zeolite 13X in a fixed bed process. The concentration of aromatic hydrocarbons in the influent and effluent streams was measured using gas chromatography. The effect of flow rate and bed length of adsorbent on the adsorption of multicomponent hydrocarbons and adsorption capacity of molecular sieve was studied. The tendency of aromatic hydrocarbons adsorption from reformate is in the order: benzene >toluene>xylenes.

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Publication Date
Mon Dec 01 2025
Journal Name
Journal Of Engineering
Experimental Evaluation of Free-Fall Gravity Drainage in Water-Drive Reservoirs: Impact of Aquifer Strength and Reservoir Heterogeneity/Homogeneity
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This study experimentally investigated Free-Fall Gravity Drainage (FFGD) under combination-drive conditions in a two-dimensional Hele-Shaw model representing a water-drive reservoir. An initially high gravity potential from the oil column enabled early oil drainage before aquifer support became dominant. Three water-drive strengths were tested, demonstrating that a stronger aquifer (1.15 psig) accelerated oil recovery to approximately 75% of the original oil in place (OOIP) within 60 minutes, resulting in a final recovery of 79.5%. However, this was accompanied by rapid water breakthrough after 2.5 minutes and high-water cuts exceeding 90%. In contrast, a weaker aquifer (0.725 psig) stabilized the oil–water contact, delaying w

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Publication Date
Thu Dec 09 2021
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Seroprevalence of Toxoplasma Gondii in Parkinson’s Disease Iraqi Patients
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Background Several studies have addressed the prevalence of Toxoplasma gondii (T. gondii), among Parkinson’s disease (PD) patients in different countries, and the potential association between the infection and PD; the results of these studies were conflicting. The study aims to investigate the prevalence of Toxoplasma infection among sample of Iraqi PD patients. Also, to examine the potential association of age, PD duration, gender, smoking habit, zone of residence and family history of PD, with the prevalence of Toxoplasma infection in PD patients.

Patients and Methods Seventy-four PD patients attaining Dr. Saad Al-Witry Neuroscience Hospital in Baghdad/ Ir

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Publication Date
Thu Dec 28 2023
Journal Name
The Iraqi Journal Of Veterinary Medicine
Molecular Identification and Phylogenetic Analysis of Salmonella‎ species ‎Isolated from Diarrheal Children and Dogs in Baghdad Governorate, ‎Iraq‎
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This work aimed to use conventional PCR to identify Salmonella‎ spp. that ‎were isolated from diarrheal children and healthy and diarrheic dogs based on four ‎virulence genes, hilA, stn, spvR‎, and marT. Sixteen Salmonella‎ isolates including: 9 ‎isolated from children's diarrhea from three species (S. Typhimurium, S. Enteritidis, S. ‎Typhi) and seven isolated from dogs including (S. Typhimurium, S. Enteritidis, S. ‎Muenchen), were identified primarily by several methods. The PCR products of the 16S ‎rRNA gene were sequenced and examined using BLAST analysis to find differences and ‎similarities between these Iraqi isolates and already-known global strains in order to ‎construct the phylogenetic tree of S.

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Publication Date
Tue Jan 01 2019
Journal Name
Journal Of Global Pharma Technology
Phenotypic, genotypic correlation and path coefficient for several traits of maize under watered and water stress
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