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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 Jan 01 2019
Journal Name
Plant Archives,
Phenotypic, genotypic correlation and path coefficient for severaltraits of maize under watered and water stress (agronomic traits)
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Publication Date
Fri Nov 09 2018
Journal Name
Iraqi National Journal Of Nursing Specialties
The Prevalence of Iron Deficiency Anemia among Pregnant Women in Ibn- Albaldy Hospital
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Objectives: To study the prevalence of iron deficiency anemia in pregnant women and to find out the degree of
iron deficiency anemia and to find out any association this has been found between the socio- demographic
characteristics and the degree of iron deficiency anemia.
Methodology: A cross sectional study has been conducted in Ibn-Albaldy hospital in Baghdad among 258
pregnant women attending outpatient clinics during the period from the 1st of March 2011 to fifteenth of
October 2011. Data collection was by using a previously designed questionnaire including socio-demographic
characteristics, obstetrical history. A blood sample has been obtained to estimate the hemoglobin, mean
corpuscular volume, serum iron and

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Publication Date
Sat Apr 30 2022
Journal Name
Pakistan Journal Of Medical And Health Sciences
Role of Progranulin and its Implication in Knee Osteoarthritis among Iraqi Patients
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Background: Osteoarthritis is a complicated, chronic disorder of cartilage and bone, associated with homeostasis of bio-elements. The current study aims to assess the role of serum progranulin levels among Iraqi patients with knee osteoarthritis. Patients and Methods: The study encompassed 50 patients aged 52.50 ± 3.12 years (25 males and 25 females), admitted to the at the Baghdad Medical City through the period from November 2021 to March 2022. All individuals were identified by physicians in a Rheumatology and Rehabilitation Outpatient Clinic and the clinical data was collected along with the assess¬ment of biochemical parameters. Fasting serum glucose, lipid profile, calcium, magnesium, alkaline phosphatase, vitamin D3, and p

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Publication Date
Fri Oct 01 2010
Journal Name
Saudi Pharmaceutical Journal
Comparative clinical evaluation of ketotifen and montelukast sodium in asthmatic Iraqi patients
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Publication Date
Fri Mar 12 2021
Journal Name
Medico Legal Update
Characterization of NPM1 and FLT3-ITD Mutations in Iraqi Patients with AML
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Acute myeloid leukemia is a malignant disease results from mutation in a multipotent haemopoietic stemcell. The study aimed to investigate NPM1 and FLT3-ITD mutations in Iraqi patients with AML and correlateresults with other clinical and laboratory findings. Fifty-eight AML patients, admitted to Baghdad TeachingHospital from October 2019 till March 2020 in addition to 25 normal controls, were included in the study.A detailed history, laboratory investigations including FLT3-ITD and NPM1 mutations were collected fromand analyzed. FLT3-ITD was detected in 17.24% of patients, NPM1 mutation in 10.34%. Most of thepatients are presented with pallor. FLT3-ITD mutation had a higher blast cell count (74%) while NPM1mutation had higher WBCs

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Publication Date
Wed Jun 30 2010
Journal Name
Iraqi Journal Of Chemical And Petroleum Engineering
Study on Vanadium Recovery from Spent Catalyst Used in the Manufacture of Sulfuric Acid
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Spent catalysts for sulfuric acid production have large amount of vanadium and due to environmental authority it is required to reduce the vanadium contain of the spent catalyst. Experimental investigation was conducted to study the vanadium recovery from spent catalyst via leaching process using sodium hydroxide to study the effect of process variables (temperatures, sodium hydroxide molarities, leaching time and particle size) on vanadium recovery. The effect of process variables (temperature, particle size,molarities of sodium hydroxide and leaching time) on the percentages of vanadium recovery were investigated and discussed .It was found that the percentage of vanadium recovery increased with increasing temperature up to 100 , incre

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Publication Date
Sat Feb 01 2014
Journal Name
Journal Of Economics And Administrative Sciences
Distribution of Municipal Services and Some Factors Affecting Them (A survey in a sample of districts from Rushed municipal in Baghdad)
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s The study aims to identify the fairness in the distribution of municipal services between  municipal districts and areas, from point of view  of municipal chamber staff and from the point of view of the citizen. It also aims to identify factors affecting the fairness of the distribution of municipal services. Municipal services were being studied : hygiene and waste, water supply, sewer, creating gardens,  and street paving .Factors which  examined its impact on municipal services are: resources available to municipal chamber, the managerial  process at municipal chamber,  and factors in the external environment surrounding  municipal chamber.The results of the study showed that level of the e

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Publication Date
Mon Mar 15 2021
Journal Name
Al-academy
tv series with multiple parts from the viewers viewpoint: عبد الكريم حسين عباس السوداني
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TV drama has gone through many developmental stages until it reached and settled in the form of TV series of thirty episodes. Alongside the development of the TV technologies and the widespread of satellite channels, the form of the TV drama has changed and the series has consisted of two parts and then parts multiplied until they amounted to ten parts and more. This form of TV drama has become an artistic phenomenon, that once the series is displayed on one of the channels and achieves a noticeable success, its producers work to produce a second part of that series and so on. This form of TV drama has remained away from being researched.
This has urged the researcher to accomplish this study entitled (TV series of multiple parts fro

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Publication Date
Fri Mar 01 2024
Journal Name
Medicine Advances
Quality of life, adherence and knowledge of epileptic patients and the impact of a pharmacist‐led educational intervention: A review
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Around 65 million individuals suffer from epilepsy worldwide, and when it is not properly treated, it is linked to higher rates of physical harm and mortality. Due to the requirement for long‐term therapy and the side effects of many medications, medication compliance is a significant issue. The purpose of this review was to summarize the findings of previous studies examining the quality of life (QOL), adherence, patient education, and medication knowledge, as well as the impact of a pharmacist‐led educational intervention. Additionally, to find out if these studies benefit epileptic patients, to find the appropriate method used to help them in all aspects of their lives, and to use these in future studies. A systematic and comprehensi

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Publication Date
Sat Jan 01 2022
Journal Name
Journal Of Pharmaceutical Negative Results
Influence of Leukotriene Pathway Polymorphisms (Arachidonate 5-lipoxygenase ALOX5,Cysteinyl Leukotriene Receptor CysLTR1) On Response to Montelukast in A sample of Asthmatic Iraqi Patients
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