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
Wed Mar 30 2022
Journal Name
College Of Islamic Sciences
A stylistic study of proisepoeme and congratulation from Hafiz Ibrahim's collection
...Show More Authors

A stylistic study in the poetry of Hafiz Ibrahim, praise be to God, Lord of the worlds, and prayers and peace be upon his best messengers, and the seal of his prophets, Muhammad and his good and pure family, and after ...
The poet Hafez Ibrahim is considered one of the well-known poets in the modern era, and his language was distinguished by sobriety, eloquence in expressions, and beautiful meanings And he had my journey in the study of his poetry a stylistic study, and the research came with an introduction in which the concept of stylistics was briefly explained, since it was studied by many researchers, then divided the research into three topics: I studied in the first the construction of the poem, and I stood at the most importan

... Show More
View Publication Preview PDF
Crossref
Publication Date
Mon Jun 05 2023
Journal Name
Journal Of Engineering
Historical Paths and the Growth of Baghdad Old Center
...Show More Authors

Urban growth of cities is connected with three related problems, the first one, is the deterioration of the center, which is a mark for historical origin. The second is the emergence of city edge, which contradicts by the center. The third one is the rapid semi urbanism of the edge. Literature review showed that Baghdad historical center (Old Rusafa and Karkh) had grown in four morphological stages, during which main paths had been changed from those which were perpendicular to the river front to those parallel to it. Research problem is that “there is a knowledge gap about the direction and origin of paths within Baghdad old center, after its growth”. The first research hypothesis is, “the direction of paths within old Baghdad cen

... Show More
View Publication Preview PDF
Crossref (5)
Crossref
Publication Date
Tue Oct 01 2019
Journal Name
Karbala Journal Of Physical Education Sciences
Effect of use a designed device to develop some biochemical variables for rear vault dismount with one-half twist on parallel bars in gymnastics
...Show More Authors

The research included five sections containing the first section on the introduction o research and its importance and was addressed to the importance of the game of gymnastic and skilled parallel bars effectiveness and the importance of biochemical variables, either the research problem that there is a difference in learning this skill and difficulty in learning may be one of the most important reasons are falling and injury Has a negative impact on the performance and lack of sense of movement of is one of the obstacles in the completion of the skill and the goal of research to design a device that helps in the development of biochemical changes to skill of rear vault dismount with one-half twist on parallel bars in gymnastics . And the n

... Show More
Preview PDF
Publication Date
Wed Dec 15 2021
Journal Name
Al-academy
Realism in the painting of Iraqi Kurdistan artists "A Study in methods of expression"
...Show More Authors

The tagged research (realism in the Paintings of Iraqi Kurdistan artists, “a study of expression methods”) dealt with realism in an objective way, as well as the complexity of its concepts through its formations and formations. On realism and its historical dimension in concept and meaning, as for the second chapter, the research was focused on the methods of expression in painting, while the third chapter was concerned with the procedural applications of realistic methods of expression in the drawings of Iraqi Kurdistan, and according to these axes and to achieve the goal of the research, a number of Among the results are:
1- Realism documented the life of the Kurdish society in line with the developments of the era, as the sty

... Show More
View Publication Preview PDF
Crossref
Publication Date
Wed Mar 29 2017
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Association between Gallstones and Diabetics Type 2 Iraqi Patients
...Show More Authors

Gallstone disease is one of the most common complications among diabetic patients especially type 2 DM. Till now, there is no specific and certain factor that explain the incidence of gallstones among type 2 diabetic patients and many risk factors are taken collectively to estimate its intensity and severity compared to non diabetic counter parts. This clinical study was designed to evaluate and report the incidence and severity of gallstones among type 2 diabetics and non diabetics regarding certain factors. 20 diabetic females and 20 diabetic males were collected as patients′ group and have had gallstones while 20 females and 20 males who have had gallstones without diabetes mellitus type 2 were collected as controls′ group

... Show More
View Publication Preview PDF
Crossref (1)
Crossref
Publication Date
Sun Jun 28 2026
Journal Name
Journal Of Baghdad College Of Dentistry
Interleukine-6 Level in Saliva of Patients with Chronic Periodontitis: A Case-Control Study
...Show More Authors

Background:Periodontal diseases are infectious diseases in which periodontalpathogens trigger chronic inflammatory and immune responses. Interleukine-6 is a multifunctional cytokine playing a central role in inflammation and tissue injury.The aim of the study IS to determine the level of Interleukin-6(IL-6) in saliva of patients with chronic periodontitis compared to healthy subjects. Materials and Methods:The total subjects of the present study is 60, divided into 3 groups; 20 patients with chronic periodontitis with pocket depth(PD ≥4 mm)(group I), 20 patients with pocket depth(PD <4 mm) with clinical attachment loss (group II), and 20 healthy controls with pocket probing depth (PPD ≤ 3 mm) without clinical attachment loss (g

... Show More
View Publication Preview PDF
Crossref (6)
Crossref
Publication Date
Tue Nov 01 2011
Journal Name
J Clin Exp Invest Www. Clinexpinvest. Org Vol
Oral zinc sulphate in treatment of patients with thallium poisoning: A clinical therapeutic trial
...Show More Authors

KE Sharquie, KI Al-Hamdi, AA Noaimi, AA Al-Mohammadi, J Clin Exp Invest www. clinexpinvest. org Vol, 2011 - Cited by 1

View Publication
Publication Date
Mon Sep 09 2024
Journal Name
Al-rafidain Journal Of Medical Sciences ( Issn 2789-3219 )
Association of hsCRP and Serum Kalirin Levels with the Development and Severity of Premature Coronary Artery Disease in Iraqi Patients
...Show More Authors

Background: Coronary artery disease (CAD) is a major contributor to morbidity and mortality worldwide. Early-onset CAD, also known as PCAD, is a severe form of CAD associated with high mortality and a poor prognosis. Early diagnosis is crucial to reducing complications. While hsCRP is an established biomarker for CAD, kalirin is a potential novel biomarker due to its role in promoting smooth muscle proliferation and endothelial dysfunction. Objective: To evaluate the relationship between serum kalirin and hsCRP levels with the presence and severity of PCAD and to compare the diagnostic value of both biomarkers. Method: The study recruited 92 participants into two groups: the PCAD group (46) included patients with confirmed CAD by an

... Show More
View Publication Preview PDF
Scopus (2)
Scopus Crossref
Publication Date
Sun Dec 01 2013
Journal Name
Baghdad Science Journal
Studying the possibility of confection of hepatitis C and hepatitis G viruses in Iraqi patients
...Show More Authors

The aim of this study was spot light to the possibility of confection between hepatitis C&G viruses in Iraqi patients. The groups was studied included two groups as follow: 1- first group: its (Infected group) the patients of this group have Anti-HCV abs in their serum by using Indirect ELISA technique. 2- second group: its (Control group) the persons of this group have no Anti-HCV abs in their serum by using indirect ELISA technique. The result of this study was observed there was two patients from the first group have Anti-HGVabs in their serum with infection percent 2.70%, also the same result was found in the second group wich mean there was two persons have Anti-HGVabs in their serum with infection percent 8.33% .So when we comparin

... Show More
View Publication Preview PDF
Crossref
Publication Date
Sat Jan 12 2019
Journal Name
Journal Of The College Of Education For Women
Divine Beauty from A Psychological Perspective
...Show More Authors

This research which is entitled (Devine Beauty), aims at studying the philosophical and literary extensive visions of Andalusian poets in search of pleasure in the beauty of divine self and its impact on the formation of a philosophical frame of mind. It also attempts to investigate the aesthetic aspects that highlight the prestige and greatness and majesty of that absolute beauty.
The most important conclusion of the reach is the Bany Ahmar poets use the beauty of women and the pleasure of wine as cods to reach divine beauty and get the happiness desired with the reflection of absolute beauty in a clear philosophy and thinking of the kingdom of God Almighty.

View Publication Preview PDF