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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
Sun Feb 28 2021
Journal Name
Journal Of Economics And Administrative Sciences
The role of sports marketing in achieving the competitive superiority of the organization: a case study in a sample of the Iraqi Premier League clubs
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The organization of sporting activities at the local and international levels requires a lot of money, which has increased interest in marketing in the sports field, as it is one of the modern topics that represent the basic knowledge needed by the sports marketer and which represents one of the basic concepts to enhance the benefits and returns of sports clubs. The research problem was the weak awareness of the members of the administrative body of Iraqi sports clubs of the role of sports marketing in the dimensions of competitive superiority and not exploiting them in the optimal way that enables clubs to achieve competitive superiority. The research aims to know the role of sports marketing in competitive superi

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Publication Date
Thu Oct 10 2019
Journal Name
Plant Archives
A study of qualitative, classification soil algae in some areas from Baghdad, Iraq
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A study of taxonomic quality of soil algae was conducted with some environmental variables in three sites of local gardens (Kadhimiya, Adhamiya and Dora) within the governorate of Baghdad for the period from October 2016 to March 2017. The study identified 28 species belonging to 16 species in which the predominance of blue green algae (18 species) Followed by Bacillarophyta algae (7 species) and three types of Chlorophyta. The study showed an increase in species of Oscillatoria. The results showed no significant differences between sites in temperature, pH and relative humidity, while there were clear differences between sites for salinity and nutrient The study showed a difference of irrigation water quality and use of different fertilize

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Publication Date
Wed Sep 30 2020
Journal Name
College Of Islamic Sciences
The Breadth in the meaning of the "from Surah Maryam as a model.
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Prepositions have a key function, which is to associate parts of a sentence, called letters In addition, it adds the meanings of the verbs to the names, ie reached by them, and called by the coffin characters Qualities..

          I chose to search for the meaning of the preposition "from" in Surat Maryam to know its meanings in terms of originality and expansion, so the title of the research (the meanings of preposition "from" in terms of originality and expansion in Surat Maryam model(

 

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Publication Date
Mon May 15 2023
Journal Name
International Journal Of Professional Business Review
Is It Possible To Adopt A Budget Of Performance In The Iraqi Government Companies?
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Purpose: The study aims to investigate the extent to which material and non-material requirements are available in applying budgeting programs and performance in Iraqi governmental companies that are not aimed at achieving profits. whose activities are limited to providing services of public interest. This is done by studying the extent to which the requirements of each stage of preparing the programs and performance budget can be met.   Theoretical framework: The process of evaluating financial performance is the main objective of all economic units, whether they are governmental or private economic units. Budgets contribute to the evaluation process by analyzing deviations in the application. The study includes an analytical pres

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Publication Date
Thu Aug 01 2019
Journal Name
Transylvanian Review
POSSIBILITY OF APPLICATION THE BALANCED SCORECARD IN THE IRAQI INDUSTRIAL COMPANIES: A PROPOSED MODEL
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POSSIBILITY OF APPLICATION THE BALANCED SCORECARD IN THE IRAQI INDUSTRIAL COMPANIES: A PROPOSED MODEL

Publication Date
Thu Jul 08 2021
Journal Name
Turkish Online Journal Of Qualitative Inquiry (tojqi)
Civil Protection of Rights contiguous to Author’s Royalty in Iraqi Law A comparative study
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Publication Date
Sun Mar 20 2016
Journal Name
Al-academy
Modeling of violence in a speech creativity photogrammetry Iraqi contemporary: أريج سعد عدنان الهنداوي
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The latest events in Iraq and notably the fall of Mosul in the summer of 2014 have marked a turning point in The modern history of Iraq. Violent terrorist groups have overrun a vast area comprising of many towns in mid and northern Iraq causing many casualties and mass migration. Despite Iraq’s long history of pain and suffering the events of the second half of the year 2014 have been the most violent ever witnessed. From this point of view the researcher has tried to identify specifically in this time and place the effect these events have had on the Iraqi artist and to understand how the Iraqi artists depicted this violence in their works of art. The research comprises four parts; the first looked at the language used and the and pro

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Publication Date
Sun Sep 04 2016
Journal Name
Baghdad Science Journal
Study of the Immunological Status of Iraqi Vitiligo Patients
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Vitiligo is an acquired idiopathic skin disorder characterized by depigmented macules due to loss of cutaneous melanocytes. A potential role of the immune dysfunction has been suggested in vitiligo, so to test this hypothesis, certain cytokines (IL-17A and TNF-?) and immunoglobulins (IgM, IgG, IgA and total IgE) were investigated in all participants. The study included: 60 patients with age range between (6-55) year; 30(11 males and 19 females) were untreated and 30(12 males and 18 females) were treated with Narrow Band Ultraviolet-B (NB-UVB) and 30 (14 males and 16 females) apparently healthy control. Serum was separated and cytokines (IL-17A and TNF-?) and total immunoglobulin E (IgE) were detected by using Enzyme Linked Immunosorbent Ass

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Publication Date
Sun Dec 01 2024
Journal Name
The Medical Journal Of Tikrit University
ChemiluminescenceMicroparticle Immunoassay in the Diagnosis of Hepatitis C Virus among Patients on Hemodialysis: A Comparative Study
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Browse Iraqi academic journals and research papers

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Publication Date
Mon Jan 01 2024
Journal Name
Malaysian Journal Of Nursing
Experiences of Nurses in Providing Care for Patients on the Cancer Journey: A Cross-Sectional Survey
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