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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
Tue Oct 13 2026
Journal Name
Journal Of Stomatology
Association of modifiable and non-modifiable risk factors with periodontal disease in Iraqi individuals: a retrospective study
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Introduction Periodontal diseases are ranked among the most common health problems affecting mankind. These conditions are initiated by bacterial biofilm, which is further modulated by several risk factors. Objectives To investigate the association of different risk factors with periodontal...

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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
Tue Dec 15 2020
Journal Name
Al-academy
Production Scenes in Television Series: عبد الكريم حسين عباس السوداني
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Due to the increase in the number of the satellite channels which resulted from the satellite broadcasting, the demand for the television drama production has increased dramatically, and there has been a significant competitive market, which encouraged the producers to adopt many carrots among them the inclusion of TV series large scenes whose main purpose is to show the volume of the production in the series, let alone achieving the dramatic function. The researcher called this type of scenes (the productive scenes), a name which has not been used before. The researcher studied these scenes and determined his research subject under the title (the production scenes in the TV series) where the research problem has been determined through

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Publication Date
Wed Nov 15 2023
Journal Name
Oncology And Radiotherapy
Synthesis, spectroscopic characterization, molecular docking, antioxidant and anticancer studies of some metal complexes from tetraazamacrocyclic Schiff base ligand
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Five novel nickel, iron, cobalt, copper, and mercury complexes were synthesized from tetraazamacrocyclic Schiff base ligand (L), which were derived from 3-(4-(dimethyl amino) benzylidene) pentane-2,4-dione and 1,2- diaminocyclohexane in a 2:2 molar ratio. Many physico-chemical and spectroscopic techniques, including melting point, 1HNMR, 13CNMR, elemental analysis, molar conductance, magnetic susceptibility, UV-Vis, FT-IR, and thermogravimetric analysis (TGA), were used to characterize the Schiff base ligand and all metal complexes. The octahedral geometry of all the complexes [MLCl2] is confirmed by spectroscopic analyses. All substances' biological properties, such as their in vitro antioxidant activity or level of free radical scavenging

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Publication Date
Sun Jul 01 2001
Journal Name
Bulletin Of The Iraq Natural History Museum (p-issn: 1017-8678 , E-issn: 2311-9799)
A new species of Wohlfahrtia Brauer and Bergenstam (Dipetera: Sarcophagidae) from Iraq
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Wohlfahrtia longicorpuris sp. nov., from Iraq described, illustrated and distinguished from related species. The adults were reared from larvae collected from ulcer of a human face. Wohlfahrtia Brauer and Bergenstam is one of most important genus,which contains 19 species (Pape, 1998), some of these produce myiasis in mammals (Verves,1985).Taxonomic revision of this genus has been carried out by the following authors: Rohdendrof (1956), Zumpt (1965) and Pape (1996).

 

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Publication Date
Tue Jan 01 2019
Journal Name
Iraqi Journal Of Agricultural Sciences
Cloning and expression of a lipase gene from Pseudomonas aeruginosa into E.coli
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Fifteen local isolates of Pseudomonas were obtained from several sources such as soil, water and some high-fat foods (Meat, olives, coconuts, etc.). The ability of isolates to produce lipase was measured by the size of clear zone on Tween 20 solid medium and by measuring the enzymatic activity and specific activity. Isolate M3 (as named in this study) was found to be the most efficient for the production of the lipase with enzymatic activity reached 56.6 U/ml and specific activity of 305.94 U/mg. This isolate was identified through genetic analysis of the 16S rRNA gene. and it was shown that the isolate M3 belongs to Pseudomonas aeruginosa with 99% similarity. The DNA of isolate M3 was extracted and lipase gene was amplified through PCR tec

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Publication Date
Tue May 27 2025
Journal Name
Fullerenes, Nanotubes And Carbon Nanostructures
Effect of phosphoric acid plasticization on PVA/graphene oxide films: a comprehensive study of structural, thermal, optical, and electrical properties
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This study investigates the influence of phosphoric acid (H3PO4) molarity (2 M, 4 M, and 6 M) on the structural, thermal, optical, and electrical properties of polyvinyl alcohol (PVA)/20% graphene oxide (GO) composite films. X-ray diffraction analysis revealed a semi-crystalline nature for PVA, with characteristic peaks at 19.7 degrees and 42 degrees, and crystalline peaks for GO at 10.1 degrees and 39.8 degrees. The addition of H3PO4 to the PVA/GO composite resulted in the disappearance of GO crystalline peaks, suggesting reduced crystallinity. Differential scanning calorimetry revealed a reduction in both glass transition and melting temperatures as H3PO4 concentration increased. Pure PVA exhibited Tg and Tm values of 68.9 degrees C and 1

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Publication Date
Tue Oct 13 2026
Journal Name
Journal Of Baghdad College Of Dentistry
An Assessment of Salivary Leptin and Resistin Levels in Type Two Diabetic Patients with Chronic Periodontitis (A Comparative Study)
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Background: Type 2 diabetes mellitusand chronic periodontitis hold a close relationship that has been the focus of many researches. Currently there is an appreciation to the role of adipose tissue-derived substances "the adipokines" in immune-inflammatory responses; also, there is an interest in using the simple non-invasive saliva in diagnosing and linking oral and general health problems. The current study aims to determine the periodontal health status in the chronic periodontitis patients with and without poorly or well controlled type 2 diabetes mellitus, measure the salivary levels of two adipokines "leptin and resistin", pH and flow rate and then correlate between these clinical periodontal, biochemical and physical parameters in eac

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Publication Date
Wed Jan 01 2020
Journal Name
Plant Archives
A novel finding of il-9 genetic polymorphism (rs17317275) and serum level in rheumatoid arthritis patients infected with CMV
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RA is a complex chronic disease, primarily affects the lining of the synovial joints and can cause progressive disability, premature death, and socioeconomic burdens. The clinical manifestations of symmetrical joint involvement include arthralgia, swelling, redness, and even limiting the range of motion. The pathogenesis is not known therefore the study included Rheumatoid arthritis (RA) is one of systemic inflammatory diseases that characterized by a progressive disabling course. The study included patients suffering from RA and as healthy controls. immunological and genetic factor were evaluated in each subject by using serum level of cytokine and genetic factor. The etiopathology of the disease is not well known for this reason the study

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Publication Date
Fri Aug 09 2024
Journal Name
The Egyptian Journal Of Neurology, Psychiatry And Neurosurgery
Patterns and sociodemographic characteristics of substance abuse among hepatitis C virus-infected patients in Iraq: a cross-sectional study
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Abstract<sec> <title>Background

Substance use disorders are a widely recognized problem among hepatitis C-infected patients; moreover, substance abuse by intravenous injection is a common mode of transmission of the hepatitis C virus worldwide. The frequency of substance use disorders and their relation to hepatitis C infection are still unknown in Iraq. This cross-sectional study, conducted among a sample of hepatitis C- infected patients attending the Gastrointestinal Tract Center in Baghdad Medical City, aimed to examine the prevalence of substance use disorders, the sociodemographic characteristics of the abusers, and the relation between intravenous

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