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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 Sep 27 2022
Journal Name
Al–bahith Al–a'alami
POLITICAL DEBATES AND THEIR ARTISTIC CONSTRUCTION IN IRAQI SATELLITE CHANNELS ( AN ANALYTICAL STUDY ) : (A research drawn from a Master Thesis)
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The problem of research on the study of political debate programs in the Iraqi satellite channels, in the "People decide" program by Afaq channel and " electoral competition " by Fallujah channel), and its importance for the community and researchers in the scientific field, as new programs to enter the Iraqi media after we have been the world media a lot in this area at the academic and practical levels (The field), and seeks to find out what the technical construction of the programs of political debates in Iraqi satellite channels and methods of construction and methods of employment used by the technical elements in the presentation of the programs and The study adopted the surve

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Publication Date
Sat Jul 22 2023
Journal Name
Journal Of Engineering
Hybrid Controller for a Single Flexible Link Manipulator
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In this study, the dynamic modeling and step input tracking control of single flexible link is studied. The Lagrange-assumed modes approach is applied to get the dynamic model of a planner single link manipulator. A Step input tracking controller is suggested by utilizing the hybrid controller approach to overcome the problem of vibration of tip position through motion which is a characteristic of the flexible link system. The first controller is a modified version of the proportional-derivative (PD) rigid controller to track the hub position while sliding mode (SM) control is used for vibration damping. Also, a second controller (a fuzzy logic based proportional-integral plus derivative (PI+D) control scheme) is developed for both vibra

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Publication Date
Mon Jun 19 2023
Journal Name
Journal Of Engineering
A Multi-variables Multi -sites Model for Forecasting Hydrological Data Series
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A multivariate multisite hydrological data forecasting model was derived and checked using a case study. The philosophy is to use simultaneously the cross-variable correlations, cross-site correlations and the time lag correlations. The case study is of two variables, three sites, the variables are the monthly rainfall and evaporation; the sites are Sulaimania, Dokan, and Darbandikhan.. The model form is similar to the first order auto regressive model, but in matrices form. A matrix for the different relative correlations mentioned above and another for their relative residuals were derived and used as the model parameters. A mathematical filter was used for both matrices to obtain the elements. The application of this model indicates i

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Publication Date
Sun Jan 01 2023
Journal Name
The Egyptian Journal Of Hospital Medicine
Evaluation of Interleukin-9 Serum Level and Gene Polymorphism in A Sample of Systemic Lupus Erythematosus in Iraqi Female's Patients.
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Background Immunological gene and serum level for interleukin- 9 rs 17317275 have been established to have linked to predisposition systemic lupus erythematosus (SLE) and its severity. SLE is a severe, systemic autoimmune disease characterized by autoantibody generation, complement activation, and immune complex deposition. In the pathophysiology of SLE, cytokines have a pleiotropic function. Recently, IL-9 was discovered to mediate strong anti-inflammatory effects in numerous cells or experimental autoimmune models. Objective This study aimed to determine the role of age, IL-9 serum level and genetic polymorphism, C-reactive protein (CRP), Anti-nuclear antibody (ANA) and Anti- double-stranded DNA (anti-dsDNA) to recognize SLE pathogenesis.

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Publication Date
Mon Jun 01 2009
Journal Name
Journal Of Economics And Administrative Sciences
Performance Series Performance Metrics (*) A case study in the General Company for Cotton Industries
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The problem of the research is focused on importance limited of Iraq industrial companies in application of scientific measurements of supply chains performance,  The research sought to achieve a group of goals, the most important are , identifying the strengths and weaknesses in the reality of supply chain in General Company for Cotton Industries, The data and information required are gathered from the dependence company, records through the field observations and personal interviews, the research used some quantitative indicators to measure of supply chain performance, The research reached to many conclusions , the most outstanding among them is the existence of a strong inverse correlatio

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Publication Date
Tue Mar 01 2016
Journal Name
Al-academy
Mechanics ofintertextuality in the series TV historical (mekhtarAlthagafi) a modelseries: سلوان بهاء كاظم الموسوي
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It was not coincidene that much talk about intertxtuality prescription phenomenon tzms the creative process but have directed their tracks beyond the litery taxs prior or contemporaneous as the mechanics of in tertexuality able to contain all the pattems of expression in literary texts and fee structures ofher text copable of understanding and in terpretaion especially as the phenomenon of in twrtexuality actually depends on the existence of Understanding and interpretation, especially as the phenomenon of intertextuality actually depends on the existence of systems indicative independent but carries processes rebuild text templates one way or another are included in the templates and visions of other intellectual, Mstmjh languages cultu

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Publication Date
Tue Jun 01 2021
Journal Name
Journal Of Engineering
Experimental Investigation of a Single Basin -Single Slope Solar Still Coupled with Evacuated Tube Solar Collector
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This work is an experimental investigation for single basin-single slope solar still coupled with an evacuated tube solar collector. The work is carried out under the climatic conditions of Baghdad city (33.2456º North and East latitude, 44.3337º longitude) through certain days of the months of the year 2019 to study the impact of using evacuated tube solar collector on the daily productivity and efficiency under the outdoors climatic conditions. It was found that using the evacuated tube solar collector increase daily productivity from 2.175 kg/  to 2.95 kg/ for 9 hours (35.63 %) for clear days, also an enhancement about 10.97 % in daily efficiency.

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Publication Date
Wed Sep 14 2016
Journal Name
Journal Of Baghdad College Of Dentistry
Radiological Assessment of Mandibular Retromolar Canal (MRMC) Using CBCT-Radiographs in a Sample of Iraqi Patients
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Background: Because of its clinical and surgical importance and lack of precise information about this rare and important anatomical landmark, this study was designed to detect the presence, configurations and length of Mandibular Retromolar Canal (MRMC) with aid of CBCT visualization. Materials and methods: In this retrospective study the data was obtained from Specialist Health Center in AL-Sadder city in Baghdad for (100) patients with 200 inferior dental canal, all of them referred to CBCT scan (Kodak 9500, French origin). The scanning was done with tube voltage 90 kVp, tube current with 10mA and exposure time was 10 s., the field of view was measured with 5cm x 3.7cmwith 0.03mm voxel size Results: In the present study the prevalence of

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Publication Date
Tue Dec 31 2024
Journal Name
Journal Of The Faculty Of Medicine Baghdad
Evaluation of Human β-defensin-3 Diagnostic Role in a Group of Iraqi Patients with Osteoporosis
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Background: Osteoporosis (OP) is a prevalent age-related condition that increases the risk of fracture and bone fragility, as result loss of bone mass as well as micro-architectural degradation of the bone, thereby reducing the mass and strength of bone. Human β-defensin (HBD-3) is ananti-inflammatory peptide andcrucial part of the human innate immune system. Giving early therapeutic intervention for OP requires an early diagnosis. Objectives: To evaluate the serum HBD-3 accuracy of diagnosis in patients with osteoporosis. Methods: The study was conducted in the National Joint Center at Yarmouk Teaching Hospital in Baghdad during September - October 2023. Eighty participants were recruited, all of whom had clinical examinations an

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Publication Date
Wed Jun 11 2008
Journal Name
Journal Of Al-nahrain University
ANALYSIS OF A MOLECULAR DYNAMICS SIMULATION OF THE ACETYLCHOLINESTERASE ENZYME AND ITS COMPLEX WITH (AXILLARIDINE-A) INHIBITOR
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Molecular dynamics (MD) simulations were carried out in order to investigate the binding mode of axillaridine-A at the active site of human acetylcholinesterase (AChE) enzyme. 2.0 nanosecond of MD simulations was made for the protein and the complex to dynamically explore the active site and the behavior of the ligand at the peripheral AChE binding site. These calculations for the enzyme alone showed that the active site of AChE is located at the bottom of a deep and narrow cavity whose surface is lined with rings of aromatic residues and Tyr72 is almost perpendicular to the Trp286 ring and forms a stable - interaction. The size of the active site of the complex decreases with time due to increase the interaction. Axillaridine-A forms

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