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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
Mon Aug 01 2011
Journal Name
Journal Of Engineering
INVESTIGATION OF TWISTED TAPE TURBULATOR FOR FIRE TUBE BOILER Part I. Heat Transfer
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The present work presents a new experimental study of the enhancement of turbulent
convection heat transfer inside tubes for combined thermal and hydrodynamic entry length of one
popular “turbulator” (twisted tape with width slightly less than internal tube diameter) inserted for
fire tube boilers. Cylindrical combustion chamber was used to burn (1.6 to 7kg/h) fuel oil #2 to
deliver hot gases with ranges of Reynolds number (10500 to 21700), and (11400 to 24150) for both
empty and inserted tube respectively.A uniform wall temperature technique was used by keeping
approximately constant water temperature difference (25ºC) between inlet and exit cooling water in
parallel flow shell and tube heat exchanger. The test

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Publication Date
Thu Feb 13 2020
Journal Name
Thesis
IMPLICATION OF GEOMECHANICAL EVALUATION ON TIGHT RESERVOIR DEVELOPMENT / SADI RESERVOIR HALFAYA OIL FIELD
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IMPLICATION OF GEOMECHANICAL EVALUATION ON TIGHT RESERVOIR DEVELOPMENT / SADI RESERVOIR HALFAYA OIL FIELD

Publication Date
Wed May 31 2017
Journal Name
Al-khwarizmi Engineering Journal
Corrosion control of Buried Low Carbon Steel Structure by Using Alteration Medias method
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Abstract

The aim of the present work is to control of metal buried corrosion by alteration the media method. This method depended on the characteristics of each media. The corrosion rates in different media (soil, sand, porcelanite stone and gravel) for specimens of low carbon steel were measured by two methods weight loss method and polarization method, weight loss measured by buried specimens in these medias separately for 90 days. The polarization method includes preparing of specimen and salt solutions have electrical resistivity equivalent electrical resistivity of these media. The corrosion rate of two method results in (soil > sand> porcelainte stone> gravel). The lower corrosion rate happene

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Publication Date
Sun Jan 14 2018
Journal Name
Journal Of Engineering
Optimum Design of Power System Stabilizer based on Improved Ant Colony Optimization Algorithm
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This paper presents an improved technique on Ant Colony Optimization (ACO) algorithm. The procedure is applied on Single Machine with Infinite Bus (SMIB) system with power system stabilizer (PSS) at three different loading regimes. The simulations are made by using MATLAB software. The results show that by using Improved Ant Colony Optimization (IACO) the system will give better performance with less number of iterations as it compared with a previous modification on ACO. In addition, the probability of selecting the arc depends on the best ant performance and the evaporation rate.

 

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Publication Date
Tue Dec 05 2023
Journal Name
Baghdad Science Journal
Antifungal Potential of Cladosporium sp. (Endophytic fungi) Associated with Olea europaea L. Leaves
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In the leaves of Olea europaea L. Olive trees an endophytic fungus was discovered. Cladosporium sp. was identified to be the fungus based on its morphological characteristics and nuclear ribosomal DNA ITS sequence analysis and was registered in NCBI as the Cladosporium genus has been registered under the number (0P939922.1) The species was not specified, and it was considered of unknown species after comparing it to global isolates. In comparison to olive leaf extract, Cladosporium sp. including total flavonoid, total phenolic, total terpenoid, and total saponins, Which were 121.9%, 198.1%, 89.13%, and 29.87 % respectively compared to its content in olive leaf extract, which was 61.54 %, 67.88 % , 17.1

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Publication Date
Wed Oct 11 2023
Journal Name
Journal Of Educational And Psychological Researches
Linguistic Competencies Required for Teachers of the Arabic Language for the Preparatory Stage
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The current research aims to determine the necessary linguistic competencies for Arabic language teachers of the preparatory stage (fourth grade preparatory), which were five main competencies: Arabic grammar competencies, literary competencies, cultural competencies, rhetorical competencies, and expression competencies. To achieve the objective of the research, the researcher developed a questionnaire as the main tool for collecting data based on literature, it consists of (28) items including the five main competencies. The questionnaire was administered to (60) male and female teachers at Al-Karkh's first Education Directorate in the city of Baghdad. The findings of the research indicated that Arabic language proficiency got the highe

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Publication Date
Tue Dec 31 2019
Journal Name
Opcion
Analysis of Computer Textbook for the Second Intermediate Grade According to Digital Citizenship
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The research aims to build a list of digital citizenship axes and standards and indicators emanating from them, which should be included in the content of the computer textbook scheduled for second grade intermediate students in Iraq, and the analysis of the above mentioned book according to the same list using the descriptive analytical method ((method of content analysis)). The research community and its sample consisted of the content of the computer textbook scheduled for the second year intermediate students for the academic year 2018-2019, and the research tool was built in its initial form after reference to a set of specialized literature and previous studies that dealt with topics related to digital citizenship, and the authenticit

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Publication Date
Sat Dec 14 2019
Journal Name
International Journal On Emerging Technologies
Utilizing an Artificial Neural Network Model to Predict Bearing Capacity of Stone Columns
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ABSTRACT: Ultimate bearing capacity of soft ground reinforced with stone column was recently predicted using various artificial intelligence technologies such as artificial neural network because of all the advantages that they can offer in minimizing time, effort and cost. As well as, most of applied theories or predicted formulas deduced analytically from previous studies were feasible only for a particular testing environment and do not match other field or laboratory datasets. However, the performance of such techniques depends largely on input parameters that really affect the target output and missing of any parameter can lead to inaccurate results and give a false indicator. In the current study, data were collected from previous rel

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Publication Date
Sun Jul 30 2023
Journal Name
American Journal Of Environmental Economics
Impact of Brand Capital on the Stock Price Crash Risk, an Empirical Study
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The factors influencing the financial market are rapidly becoming more complex. The impact of non-financial factors on the performance of a company’s common stock can increase in ways that were not previously expected. This study investigated how brand capital affects the risk of stock prices in Iraqi private banks listed on the Iraq Stock Exchange failing by identifying the likelihood of a crash caused by a negative deviation in the distribution of returns on ordinary shares. As a result, the current study’s concept is to review an analytical knowledge framework of the nature of that relationship, its changes, and its impact on the pricing of ordinary shares of the banks of the researched sector for the years 2009 to 2017, as w

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Publication Date
Wed May 29 2019
Journal Name
Iraqi Journal Of Physics
Weathering effects on the thermal conductivity of PS/PMMA blends for packaging application
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This work describes the weathering effects (UV-Irradiation, and Rain) on the thermal conductivity of PS, PMMA, PS/PMMA blend for packaging application. The samples were prepared by cast method at different ratios (10, 30, 50, 70, and 90 %wt). It was seen that the thermal conductivity of PMMA (0.145 W/m.K), and for PS(0.095 W/m.K), which increases by PS ratio increase up to 50% PS/PMMA blend then decreased that was attributed to increase in miscibility of the blend involved. By UV-weathering, it was seen that thermal conductivity for PMMA increased with UV-weathering up to (30hr) then decreased, that was attributed to rigidity and defect formation, respectively. For 30%PS/PMMA, there results showed unsystematic decrease in thermal conduct

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