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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 May 01 2018
Journal Name
Journal Of Physics: Conference Series
Photoluminescence Spectra From The Direct Energy Gap of a-SiQDs
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Publication Date
Tue Jan 09 2024
Journal Name
مجلة واسط للعلوم الریاضیة
The development of judo from a historical perspective (1880-1980)
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Judo has witnessed tremendous developments since its inception until the present day. It has been distinguished by its adaptation to the various challenges it has faced throughout the ages. Judo is one of the sports that have been affected by social, technological and cultural changes. These changes reflect its transformation from the traditional Japanese martial art to a global sport practiced. All over the world, therefore, studying the historical development of judo is important, as it provides valuable insights into the development of martial arts over a century, by studying the origins, principles and techniques of judo for the period (1880 - 1980), and also enables us to gain an understanding A deeper understanding of how the art form

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Publication Date
Wed Oct 01 2025
Journal Name
Central Asian Journal Of Medical And Natural Sciences
The Gastrointestinal Manifestations in Patients with COVID-19 and their Clinical Correlates in An Adult Iraqi Population Sample
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The gastrointestinal system is one of the many organs in the body that have been affected by the new viral illness known as coronavirus disease 2019 (COVID-19). To find out the GIT symptoms are into patients with Covid-19 and how they correspond with the severity of the illness. At the Al-Shifaa facility, 172 patients infected with COVID-19 participated in our study. A clinical examination, laboratory tests (CRP, D.Dimer, and serum ferritin), a chest CT scan, and a medical history were performed on each patient. The severity of the illness and other factors were taken into consideration while evaluating the gastrointestinal symptoms. Data collection from 172 patients, 91 patients infected with COVID-19 infection, 91 patients (52.9%) had GIT

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Publication Date
Wed Nov 08 2023
Journal Name
Aip Conf. Proc.
Correlation of Mercury With Some Biochemical Parameters in Serum of Mothers and Their New Born Children
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Publication Date
Thu Oct 18 2018
Journal Name
Al–bahith Al–a'alami
The Pressures Affecting the Performance of Iraqi Media before the Legislative Elections of 2018 (Iraqi Satellite News Channel- as a Model): A Survey Study  Dr.Safad Husam Hammody
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The modernity of election practices of the elections in Iraq, according to the democratic approach, has led to a struggle between political rival forces reflecting a deep pressure on the tools involved in the management, marketing or control of these elections across the general social level. Hence the problem of research resides in answering the following question: What is the nature and size of the pressures affecting the media performance of Al-Iraqia News channel before the legislative elections of 2018 in Iraq?
      The objectives of the research were the following:
1. to identify the nature of the pressures that limit the Al-Iraqia News channel’s perfo

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Publication Date
Mon Feb 10 2025
Journal Name
Journal Of Optics
Implementing quantum key distribution based on coincidence detection captured from two different single photon detection modules
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Quantum key distribution (QKD) provides unconditional security in theory. However, practical QKD systems face challenges in maximizing the secure key rate and extending transmission distances. In this paper, we introduce a comparative study of the BB84 protocol using coincidence detection with two different quantum channels: a free space and underwater quantum channels. A simulated seawater was used as an example for underwater quantum channel. Different single photon detection modules were used on Bob’s side to capture the coincidence counts. Results showed that increasing the mean photon number generally leads to a higher rate of coincidence detection and therefore higher possibility of increasing the secure key rate. The secure key rat

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Publication Date
Mon Jan 01 2024
Journal Name
Scripta Medica
Eruption of first permanent molar among a group of Iraqi children in relation to nutritional status
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Background/Aim: The timing of a tooth's eruption can be affected by a variety of factors. The nutritional status has an impact on the development of a child's body. The purpose of the study was to analyse the number of children aged 6 to 9 in an Iraqi Arab population who had erupted permanent first molars and to examine how nutritional status affected the timing and level of emergence. Methods: A total of 330 boys and girls, in first grade elementary school, made up the sample. First molars that had erupted were noted, along with the level of the eruption. Each child's nutritional status was evaluated by recording their height and weight and body mass index (BMI) value was compared to the 2007 WHO reference. Results: Girls had highe

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Publication Date
Mon Sep 01 2014
Journal Name
Journal Of Accounting And Financial Studies ( Jafs )
Obstacles to the application of total quality management program in a number of iraqi service organizations
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The research aims to statement the main obstacles that prevent the application of total quality management (TQM) in a number of Iraqi service organizations, and by one organization in each of the sectors (health, finance, education, higher education, tourism), which are, (Al-Yarmouk Teaching Hospital, Rafidain Bank/ Branch of Hay Al-Arabi Al-Jadid, Al-Karkh/1 Directorate of Education, College of administration and Economics/ Baghdad University, International Palestine Hotel). The research also, tries to classify the priority of the obstacles depending on the type of service organization surveyed. And diagnoses the extent to which or the difference of the research sample members views on the order of obstacles of TQM, and also proposes a

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Publication Date
Mon Oct 19 2026
Journal Name
Journal Of Baghdad College Of Dentistry
Assessment of dental arches symmetry in a sample of Iraqi children at the mixed dentition stage
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Background: Little is known about asymmetry of children's dental arches, the purpose of this study was to verify the presence of asymmetry of dental arches among Iraqi children in the mixed dentition stage. Materials and methods: The sample included 52 pairs of dental casts, 27 pairs belong to males and 25 pairs for females. Three linear distances were utilized on each side on the dental arch: Incisal-canine distance, canine-molar distance and incisal-molar distance, which represent the dental arch segmental measurements using the digital sliding calipers, which is accurate up to 0.02 mm. Results: No significant sides' differences with high correlation coefficient were found between the right and left incisal-canine, canine-molar and in

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Publication Date
Wed Dec 30 2015
Journal Name
Journal Of Chemical, Biological And Physical Sciences
Prevalence of Autoimmune Thyroid Disorders in a Sample of Iraqi Infertile Women with Polycystic Ovary Syndrome
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The present study aims to estimating the prevalence of autoimmune thyroid disorders in Iraqi infertile women with polycystic ovary syndrome (PCOS). Eighty-five Iraqi women, with age range (19-45) years, were divided into three groups; first group included 33 women with PCOS; second group included 30 women without PCOS; while third group included 22 fertile women as controls. The clinical data [age, body mass index (BMI), and menstrual status] have been recorded. Blood samples were collected to determine the levels of reproductive hormones [estradiol (E2), luteinizing hormone (LH), and follicle stimulating hormone (FSH)]; and thyroid hormones [triiodothyronine (T3) and thyroxin (T4)]. Also, autoimmune thyroid antibodies assessment h

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