Preferred Language
Articles
/
fOYX1Z4BmraWrQ4diWb2
Acid sphingomyelinase deficiency: Phenotypic, biochemical, and molecular heterogeneity in a series of 47 Iraqi patients from a single center
...Show More Authors

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.

Crossref
View Publication Preview PDF
Quick Preview PDF
Publication Date
Sun Jan 01 2023
Journal Name
Aip Conference Proceedings
The optical properties of mawsonite Cu6Fe2SNS8 [CFTS] thin films effected by red laser irradiation deposited via semi-computerized spray pyrolysis technique
...Show More Authors

View Publication
Scopus (2)
Scopus Crossref
Publication Date
Thu Sep 13 2018
Journal Name
Baghdad Science Journal
An Efficient Numerical Method for Solving Volterra-Fredholm Integro-Differential Equations of Fractional Order by Using Shifted Jacobi-Spectral Collocation Method
...Show More Authors

The aim of this article is to solve the Volterra-Fredholm integro-differential equations of fractional order numerically by using the shifted Jacobi polynomial collocation method. The Jacobi polynomial and collocation method properties are presented. This technique is used to convert the problem into the solution of linear algebraic equations. The fractional derivatives are considered in the Caputo sense. Numerical examples are given to show the accuracy and reliability of the proposed technique.

View Publication Preview PDF
Scopus (6)
Crossref (1)
Scopus Clarivate Crossref
Publication Date
Thu Mar 31 2022
Journal Name
Iraqi Geological Journal
Geological Model of the Khabour Reservoir for Studying the Gas Condensate Blockage Effect on Gas Production, Akkas Gas Field, Western Iraq
...Show More Authors

The Khabour reservoir, Ordovician, Lower Paleozoic, Akkas gas field which is considered one of the main sandstone reservoirs in the west of Iraq. Researchers face difficulties in recognizing sandstone reservoirs since they are virtually always tight and heterogeneous. This paper is associated with the geological modeling of a gas-bearing reservoir that containing condensate appears while production when bottom hole pressure declines below the dew point. By defining the lithology and evaluating the petrophysical parameters of this complicated reservoir, a geological model for the reservoir is being built by using CMG BUILDER software (GEM tool) to create a static model. The petrophysical properties of a reservoir were computed using

... Show More
Scopus (4)
Scopus Crossref
Publication Date
Thu Sep 20 2007
Journal Name
Journal Of Physical Education
The effect of high-intensity interval training (using weights) during the special preparation period on functional variables among junior basketball players
...Show More Authors

This study is concerned with the comparison of the results of some tests of passing and dribbling of the basketball of tow different years between teams of chosen young players in Baghdad. Calculative methods were used namely (Arithmetic mean, Value digression and T.test for incompatible specimens). After careful calculative treatments, it has been that there were abstract or no abstract differences in the find results of chestpass, highdribble and cross-over dribble. The clubs were: (Al-Khark, Air defence, Police and Al-Adamiyah) each one separate from the other for the year (2000-2001). After all that many findings were reached such as the lack of objective valuation (periodical tests) between one sport season and the other. In the light

... Show More
Preview PDF
Publication Date
Sat Jun 03 2017
Journal Name
International Journal Of Science And Research
The Sealing Ability of New Bioceramic Material Used to Repair Furcal Perforation Compared with the Traditional Repair Materials: UV Spectrophotometer Analysis
...Show More Authors

Abstract: Iatrogenic furcal root perforations are serious complications during dental treatment. This study was aimed to compare the sealing ability of new bioceramic root repair material TotalFill® with the other perforation repair materials (GIC, MTA and Biodentine) using a dye- extraction method.Materials and Methods: Forty extracted, human mandibular molars with non-fused well developed root were collected. Artificial perforations were made from the external surface of the teeth. Then the teeth were randomly divided into 4 experimental groups (n= 10) according to the type of repair material used in this study; Medifil glass ionomercement, TotalFill® bioceramic root repair material, BiodentineTM and MTA Plus. The specimens were then im

... Show More
Preview PDF
Publication Date
Wed Jan 01 2014
Journal Name
Journal Of The College Of Languages (jcl)
La réception du Petit Prince de Saint-Exupéry dans le monde arabe The impact of The Little Prince on Arabic audience
...Show More Authors

Le Petit Prince est apparu en 1943 vers la fin de la vie de son auteur. La mondialité qu'a gagnée ce récit le rend un des livres les plus lus et les plus vendus dans le monde. Cette popularité en fait un des classiques de la littérature française.

En effet la littérature française a un impact profond et direct sur la vie intellectuelle et littéraire dans le monde arabe. La circulation des œuvres littéraires écrites en français a bien influencé les lecteurs arabes soit en langue française  soit  traduites en arabe. Cette réalité est identique lorsqu'on parle de la réception du Petit Prince ; l'œuvre la plus connue dans le monde entier dès son apparition officielle.

Ab

... Show More
View Publication Preview PDF
Publication Date
Wed Jan 12 2022
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Evaluating the Impact of Pharmacist Counselling for Asthmatic Children at Karbala Teaching Hospital for Children: An Interventional Prospective Study (Conference Paper )#
...Show More Authors

Asthma is one of the most common chronic, non-communicable diseases affecting children worldwide. The estimated prevalence of pediatric asthma in Iraq is 15.8%. Physiologic, inflammatory and structural factors contribute to the development of asthma. Assessment and monitoring of asthma control can be done by a validated children asthma control test (CACT). Management of asthma must address three components which are an appropriate management plan, the most appropriate medication if necessary, and the use of safe and effective medication. The management plan should consider patient counseling and education about the definition of asthma, signs, and symptoms, the pathophysiology of asthma, common triggers for asthma and how can avoid them,

... Show More
View Publication Preview PDF
Scopus (7)
Crossref (2)
Scopus Crossref
Publication Date
Mon Aug 05 2024
Journal Name
Food And Bioprocess Technology
Development of an Innovative Reinforced Food Packaging Film Based on Corn Starch/Hydroxypropyl Methylcellulose/Nanocrystalline Cellulose Incorporated with Nanogel Containing Quercetin
...Show More Authors

View Publication
Scopus (17)
Crossref (12)
Scopus Clarivate Crossref
Publication Date
Fri Feb 28 2020
Journal Name
Neuroquantology
Using X-Ray Films for Evaluation efficiency of Unsaturated Polyester Reinforced by Lead Oxide as Shielding for Medical X-ray Devices
...Show More Authors

The largest use of x-ray in medical by dentists, employers or persons that needed by patients with specific conditions, lead to higher exposure of x-ray that may cause many diseases. In the present work radiography films have been used in evaluating the efficiency of using unsaturated polyester polymer reinforced with lead oxide (PbO) as shield material for medical x-ray devices, many parameters studied like concentration and thickness that they are increasing the attenuation of x-ray in them. The results show that the attenuation of X-ray increasing with concentration of reinforced material and with thickness, and the optical density decreases with increasing concentration from 0% to 50%, we chose 30% as suitable concentration to increase

... Show More
View Publication
Scopus Crossref
Publication Date
Thu May 01 2025
Journal Name
Journal Of Industrial And Engineering Chemistry
An innovative combination of anodic oxidation using Cu/SnO2–Sb2O5 rotating cylinder anode with TiO2 photocatalytic process for treating hospital wastewater
...Show More Authors

View Publication
Scopus (3)
Crossref (3)
Scopus Clarivate Crossref