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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
Fri Dec 23 2022
Journal Name
F1000research
Association between polymorphisms within the gene coding for tumor necrosis factor (TNF)-alpha with outcomes of treatment in a sample of Iraqi patients with ankylosing spondylitis taking etanercept: an observational study
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Background:Ankylosing spondylitis (AS) is a progressive, chronic inflammatory illness with an unclear etiology that explicitly targets the vertebral column, peripheral joints, and extraarticular tissues. The purpose of this research was to investigate if the existence of single nucleotide polymorphisms (SNPs) in the promoter region of the tumor necrosis factor-alpha (TNF-α) gene at positions -1031T/C (rs199964), -857C/T (rs1799724) and -806C/T (rs4248158) in a sample of Iraqi AS patients could influence the patients' outcomes with etanercept.

Methods:Sixty patients with established AS receiving only etanercept were selected to enroll in this study, with a mean age of 40.75±8.6

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Publication Date
Sun Mar 26 2017
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Evaluation of Poisoning Cases in the Poisoning Consultation Center and Forensic Medicine Institute within Baghdad area
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Social factors may affect the available sources of toxic substances and causes of poisoning, and these factors may change over time. Additionally, understanding the characteristics of poisoning cases is important for treating such patients. Therefore, the present study investigated the characteristics of poisoning cases in Baghdad Poisoning Consultation Center (PCC) and Forensic Medicine Institute (FMI). Data on all poisoning cases reported in PCC and FMI during 2013 were retrospectively obtained from medical records. Total of 1131 reports of poisoning cases (1082 from PCC and 49 from FMI) were analyzed according to age, sex, geographical distribution and causes of poisoning according to the type and class of poisoning agent. The results

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Publication Date
Sun Apr 30 2023
Journal Name
Al-kindy College Medical Journal
Comparison between Reference Infliximab (Remicade) and its Biosimilar (Remsima) in Patients with Ankylosing Spondylitis: A Field-based Pharmacoeconomic Study
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Background: Ankylosing spondylitis is a chronic inflammatory disease that mostly involves the spine and sacroiliac joints. It is associated with a decreased quality of life. Biological medicines such as infliximab and its biosimilar are the mainstay treatments for active ankylosing spondylitis.

Objective: The study objective was to conduct a pharmacoeconomic study comparing the cost-effectiveness of the reference infliximab with its biosimilar in ankylosing spondylitis patients visiting public hospitals.

Subjects and Method: This is a two-center pharmacoeconomic study performed at two large teaching governmental hospitals in Baghdad, Iraq, which s

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Publication Date
Tue Jun 28 2022
Journal Name
Research Journal Of Pharmacy And Technology
A Case-control Study to Determine Metalloproteinase-12 and Lysyl Oxidase Levels in Iraqi women with Osteoporosis
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The current study aimed to ascertain the levels of matrix metalloproteinase-12 (MMP-12) and Lysyl oxidase (LOX) in osteoporosis patients and their correlation with alkaline phosphatase (ALP), magnesium (Mg), vitamin D (Vit D), calcium (Ca), phosphorus (P), and T-score %. 110 participants recruited from Baghdad Teaching Hospital, Iraq, were enrolled in this study from November 2019 to March 2020). The participants were divided into two groups: Group 1 comprised 60 osteoporotic women and group 2 consisted of 50 healthy women. (MMP and LOX) were estimated using a quantitative enzyme-linked immunosorbent assay (ELISA. The results showed significant differences in serum LOX, age, ALP, Mg, and T-score %, while no significant differences i

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Publication Date
Thu Dec 15 2022
Journal Name
Al-academy
The dramatic act and its transformations in the Iraqi theatrical show "Black Astronomy play as a sample"
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The subject of the act and its transformations in the presentation is of great importance at the level of study, analysis and interpretation, and through that the researcher adopted the following title (The Dramatic Act and Its Transformations in the Iraqi Theatrical Show). The play of Black Astronomy was chosen as a sample for analysis, and the aim of the research came in order to achieve a special knowledge of the extent of the transformation that occurred between the dramatic structure of the act and theatrical embodiment and its multiple elements of operation in the Iraqi theatrical shows. It was limited to the show of the Iraqi theater in the year (2020) and included the theoretical framework that accommodated three sections. As for

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Publication Date
Tue Jul 01 2025
Journal Name
Journal Of Breast Diseases
Association Between Serum Interleukin-41 Levels and Breast Cancer Status: A Case–Control Study in Iraqi Women
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Publication Date
Sat Aug 03 2019
Journal Name
Current Research In Microbiology And Biotechnology
Seropositivity of Helicobacter pylori among Iraqi patients with Atherosclerosis and coronary artery disease
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The present study evaluated the anti- Helicobacter pylori IgG, IgA and the role of virulence factor of H. pylori Vacuolating associated cytotoxin gene (Vac A) as a risk factors for CAD. The levels of serum IgG and IgA was done by indirect immunofluorescent (IIF) whereas Vac A measured by enzyme linked immunosorbent assay (ELISA). Ibn Al-Bitar specialist center for cardiac surgery laboratory and Ministry of Health/ Baghdad/ Iraq, between May and October 2018. Seventy Iraqi patients with CAD were enrolled in this study, their ages ranged between 40-84 years ; and 20 individuals as a control group which was divided into 2 subgroups: 10 apparently healthy volunteers (negative control) and the other subgroup contained 10 with normal coronary art

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Publication Date
Mon Jul 27 2026
Journal Name
Aip Conference Proceedings
Investigation of angiotensin role and its converting enzyme for Iraqi patients with asthma
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Asthma is a chronic disease characterized by inflammatory events in the airways, that makes breathing a hard process in these patients. Angiotensin II (AngII) is important regulator for aldosterone production. Also, it participates in inducing reactive oxygen species (ROS) and inflammatory events. Angiotensin-converting enzyme (ACE) is responsible for the production of AngII. We hypothesised that ACE and AngII participate in the progression of asthma by increasing ROS production and inflammatory processes. Thus, we evaluated the level of AngII, the activity of ACE, and the level of malondialdehyde (MDA) as indicators for oxidative stress in 60 asthmatic male patients and 30 non-asthmatic male control. An asthma control test (ACT) was estima

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Publication Date
Tue Apr 21 2026
Journal Name
Microbes And Infectious Diseases
Mixed-ligand metal complexes of a p Hydroxybenzaldehyde – 4-Aminoantipyrine Schiff Base with 2,2′-Bipyridine: Synthesis, characterization, antibacterial evaluation, molecular docking and ADME studies
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Background/aim: The rising challenge of microbial resistance necessitates the development of novel therapeutic agents. This study aims to synthesize, characterize, and evaluate the antimicrobial potential of a new series of mixed-ligand metal complexes (ZnII, CuII, NiII, and MnII) derived from a p-hydroxybenzaldehyde-4-aminoantipyrine Schiff base and 2,2′-bipyridine, in addition to assessing the binding affinity and pharmacokinetic properties of the synthesized free Schiff base ligand through molecular docking and ADME profiling. Methods: The Schiff base ligand and its transition metal complexes were synthesized and subsequently characterized using single-crystal X-ray diffraction, elemental analysis, FTIR, UV–Vis spectroscopy, NMR, mag

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Publication Date
Thu Oct 01 2009
Journal Name
Journal Of The College Of Languages (jcl)
Male protagonists in Alice Walker's The Color Purple; a Voyage from Oppression to Maturity and Reconciliation
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Alice Walker's novel The Color Purple1983, whose events take place in the rural Georgia and addresses the most important issues in the early 20thcentury; like male dominant society and women submission to men, weaves a mosaic picture of male-female relationships. Black men like Alphonso, Albert and Harpo are portrayed as oppressors, cruel and they exercise power and violence over their wives and daughters. Through the negative portrayal of black male characters, Walker is accused to be a men hating writer because she ''Views oppression as an essentially masculine activity which springs from the male's aggressive need to dominate. In the novel, man is the premium mobile, the one by whom and t

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