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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 Dec 30 2008
Journal Name
Al-kindy College Medical Journal
Exfoliative Cytological Changes in Peritoneal Fluid from Patients on Peritoneal Dialysis
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Background: Ambulatory peritoneal dialysis
introduced by Popvich et al (13) in 1978 , consists of a
four to five hours lavage of peritoneal cavity with 2000
ml of glucose solution .It remains a useful method for
treating patients with end stage renal failure till renal
transplantation becomes possible.
Objectives: The aim of the study is to evaluate the
value of cytological changes of mesothelial cells in
dialysate patients.
Methods: Within one year period, 32 cytological
peritoneal fluid samples were collected from patients
with end stage renal failure regardless of the underlying
causes, admitted to the dialyzing unit in Kadimya
Teaching Hospital. Smears were prepared and fixed in
95 % ethyl al

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Publication Date
Tue Jun 30 2015
Journal Name
Iraqi Journal Of Chemical And Petroleum Engineering
Single Well Coning Problem and Applicable Solutions
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One of the most important and common problems in petroleum engineering; reservoir, and production engineering is coning; either water or gas coning. Almost 75% of the drilled wells worldwide contains this problem, and in Iraq water coning problem is much wider than the gas coning problem thus in this paper we try to clarify most of the reasons causing water coning and some of applicable solutions to avoid it using the simulation program (CMG Builder) to build a single well model considering an Iraqi well in north of Iraq black oil field with a bottom water drive, Coning was decreased by 57% by dividing into sub-layers (8) layers rather than (4) layers, also it was decreased (Coning) by 45% when perforation numbers and positions was chang

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Publication Date
Sun Oct 18 2026
Journal Name
Journal Of Baghdad College Of Dentistry
Maximum bite force among a group of Iraqi children in relation to mandibular growth rotation
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Publication Date
Sun Jun 11 2017
Journal Name
Al-academy
The approach of deliberation in the ontemporary Iraqi theater text - theatricality Afwah-as a odel
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The deliberative system of communicative studies is exposed to cultural openness, according to modern cultural studies, to establish a verbal language system that achieves reciprocal and cross-cultural relations. This research has examined the concept of deliberative approach in the contemporary Iraqi theater text by studying the deliberative system of text and its interrelationship with The stage of the verbal embodiment of the dramatic event, because the dramatic text achieves in its construction of racism, a deliberative approach between the verbal event and the language, and what later leads to the completion of the dramatic action. The research included four chapters. The first chapter was the systematic framework of the research, T

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Publication Date
Tue Jun 30 2015
Journal Name
Al-kindy College Medical Journal
Serum anti-Mullerian hormone level as a marker of polycystic ovarian syndrome in Iraqi women
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Background: Polycystic ovarian syndrome is one of the common gynaecological diseases encountered nowadays in the gynaecological clinic. Many criteria and diagnostic test had been evolved to be used with different classifications methods.Objectives: The present study aimed to measure the anti-mullerian hormone levels in serum of the women with Polycystic Ovary Syndrome and to test the possibility that if it can be used as a marker for diagnosis of polycystic ovary syndrome patients.Methods: A cross sectional study that had been conductedat Kamal AL-Samaraee Hospital, AL-Suwayrah Hospital andAl-Elwiya Maternity Teaching Hospital during the periodfrom July, 1st, 2013 – Jan. 1st, 2014. Where forty women withPolycystic ovarian syndrome (wit

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Publication Date
Wed Dec 28 2022
Journal Name
Al–bahith Al–a'alami
Effectiveness of Digital journalism in developing political awareness among Iraqi feminist activists "A survey study"
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The paper aims to reveal the effectiveness of digital journalism in developing political awareness among Iraqi feminist activists. This paper is descriptive, and it adopted the analytical descriptive survey method. A snowball sample composed of (102) respondents of Iraqi feminist activists was adopted and questionnaire was used to collect data. The research has reached the following conclusions: The rate of Iraqi Feminist Activists dependence on digital Journalism have increased; to develop their political awareness, and their preference - in this regard - (the pages of journalistic institutions to social media) in a way that exceeds other types of digital journalism. (Variety of languages) has topped the priorities of Iraqi feminist act

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Publication Date
Fri Aug 01 2025
Journal Name
Al-academy
The effectiveness of media in Iraqi theatre performances, the play (The Pawns) as a model
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أن الثورة الرقمية أصبحت اليوم واقع حتمي نعيشه من حيث القت بظلالها على مختلف جوانب الحياة، ولم يخل المسرح من هذا التأثير وخاصة في ظهور ملامح ما بعد الحداثة بكل ما تحملهُ من رؤى فكرية وفلسفية وجمالية، مع ذلك التطور التكنولوجي في هذا السياق يسعى المسرحيون والمخرجون والممثلون الى تأسيس علاقات فاعلة مع شبكات الانترنيت والوسائط الرقمية مما ظهر العديد من المواقع المهتمة بالمسرح. من هنا ظهرت اهمية الربط بين الث

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Publication Date
Thu Jul 01 2021
Journal Name
International Journal Of Drug Delivery Technology
Association between some risk factors with hormonal state in a sample of infertile iraqi women
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Publication Date
Thu Jan 31 2019
Journal Name
Journal Of Accounting And Financial Studies ( Jafs )
Activity, Profitability Indictors Analysis: A Comparsion Study among Nationality and Iraqi Insurance Company
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Reseach target the most important topic, is Activity and ProfitabilityIndictors Analysis for
Nationality and Iraqi Insurance Company, In order to stand on them ability to cover its risks
and explore the efficiency asset and its avialible resources using to determine them abilities to
profit generation from its insurance activity. The analysis was focus to examine their profit
and activity power, and test the significant differences aming them performance. Test 2
hypothese that is related and result it sign that the 2 company no has significant differences at
profitability and activity level. The research depend on coneclusion, recommended two
company to work at efficiency with cost element of insurance activity in or

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Publication Date
Tue Jan 01 2019
Journal Name
Journal Of Global Pharma Technology
A morphological study and a new species registration of genus Xerophloea Germa, 1839 sp.nov. From sub-family Ledrinae Fairmai, 1855 of the leafhopper (Hemiptera: Cicadellidae) in Iraq
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