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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
Sat Jan 01 2022
Journal Name
Journal Of Clinical And Experimental Dentistry
Prevalence of periapical lesions in non-endodontically and endodontically treated teeth in an urban Iraqi adult subpopulation: A retrospective CBCT analysis
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Publication Date
Sat Jan 01 2022
Journal Name
Journal Of Clinical And Experimental Dentistry
Prevalence of periapical lesions in non-endodontically and endodontically treated teeth in an urban Iraqi adult subpopulation: A retrospective CBCT analysis
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Publication Date
Sat Sep 01 2018
Journal Name
Journal Of Accounting And Financial Studies ( Jafs )
The effect of the volume of Capital heldin stock prices: An analytical study in a sample of Iraqi banks listed in the Iraqi Stock Exchange
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 The capital in the bank is the important element in establishing it, because it maintains the banking sector in the event of exposure to losses or risks In addition to contributing to the provision of liquidity And protection of depositors' money from potential and unexpected losses. There is also a relationship between the prices of shares and the indicators of the durability of the capital owned, considering that the shares are the components of the bank capital The study limited the indicators of capital to assets and capital to deposits, capital to loans and financial investments Where the most important conclusions are the damage to the detriment of shareholders in contrast to the depositors in the case of increasing the propo

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Publication Date
Thu Jan 30 2014
Journal Name
Al-kindy College Medical Journal
Orbital Hydatid Disease: A case study of young patients with primary orbital lesion
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Background:This is a prospective study of three children presented to us in the Orbital clinic in AL ShahidGazi Al Hariri Hospital with painless proptosiswith suspension of Hydatid disease.Objectives: : Orbital hydatid disease is a rare lesion accounting for less than 1% of the total lesions of the body (1, 2). Orbital cysts presented as a primary lesion in our study which is rare to have such lesion without involvement of other organs (3). Humans represent the intermediate host where the commonly affected organ are liver and the lung (10-15%) (4). Methods:This is a prospective study of three Children presented to us in the Orbital clinic in Al Shahid Ghazi Alhariri Hospital with painless proptosis with suspension of Hydatid disease, dep

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Publication Date
Sun Dec 01 2013
Journal Name
Baghdad Science Journal
Effect of Pregnancy on Selenium, Cupper ,Zinc and Others Biochemical Feacture
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Pregnancy is a stressful condition in which many physiological and metabolic functions are altered to a considerable extent . Pregnancy is a physiological state accompanied by a high-energy demand and an increased oxygen requirement. The present study aim to study selenium ,zinc cupper in the first trimester of pregnancy. The study group comprised of Fourty five pregnant women and twenty six non pregnant women as control . The samples were taken from pregnant women who come to several heath center in Baghdad city to cheak up. Laboratory investigations including Cupper, Ceruloplasmin, Total Antioxidant (TAA), malondialdehyde (MDA), glutathione (GSH), Zinc, Uric acid, and Selenium had been measured in pregnant women and control . Th

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Publication Date
Sat Dec 01 2018
Journal Name
Al-khwarizmi Engineering Journal
Time Series Analysis of Total Suspended Solids Concentrations in Euphrates River in Al-Nasria Province
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The monthly time series of the Total Suspended Solids (TSS) concentrations in Euphrates River at Nasria was analyzed as a time series. The data used for the analysis was the monthly series during (1977-2000).

The series was tested for nonhomogenity and found to be nonhomogeneous. A significant positive jump was observed after 1988. This nonhomogenity was removed using a method suggested by Yevichevich (7). The homogeneous series was then normalized using Box and Cox (2) transformation. The periodic component of the series was fitted using harmonic analyses, and removed from the series to obtain the dependent stochastic component. This component was then modeled using first order autoregressive model (Markovian chain). The above a

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Publication Date
Thu Nov 01 2018
Journal Name
Journal Of Craniofacial Surgery
Novel Application of Platelet-Rich Fibrin as a Wound Healing Enhancement in Extraction Sockets of Patients Who Smoke
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Abstract

The objectives of this study were to assess the potential of platelet-rich fibrin (PRF) on acceleration of soft tissue healing after tooth extraction and to evaluate its effectiveness in reducing the prevalence of dry socket among smoker patients. Twenty smoker male patients aged (18–72) years with multiple teeth extraction were participated in this clinical research. They underwent trans-alveolar extraction of 40 teeth. The extraction sockets were divided in each patient into 2 groups: the study group in which extraction sockets were treated with PRF and the control group: in which extraction sockets left to heal naturally without PRF. Platelet-rich fibrin enhan

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Publication Date
Sun Jun 21 2020
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Health-Related Quality of Life among a Sample of Chronic Hepatitis B Patients in AL-Najaf Province /Iraq.
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Abstract

The effect of physical and mental health on the feelings of personal welfare are known as health-related quality of life. Infection with hepatitis B virus is a major global health problem. Health-related quality of life was emerged as an important consideration in the care of patients with chronic hepatitis B infection. The aim of the current study was to measure health-related quality of life among a sample of chronic hepatitis B patients in AL-Najaf city/Iraq. The current study was cross-sectional study carried out on (104) already diagnosed chronic viral hepatitis B patients who attended the Gastroenterology and Hepatology Center/Al-Sader Medical City/Najaf during November 2018 to May

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Publication Date
Sat Dec 01 2018
Journal Name
Journal Of Accounting And Financial Studies ( Jafs )
Development means in Iraqi commercial banks to reduce unemployment: A sample of private commercial banks in Iraq
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Many economists believe that the development and promotion of small and medium-sized enterprises is one of the most important sources of economic and social development in countries in general and in developing countries in particular. This is considered to be an essential starting point for increasing production capacity and contributing to tackling poverty and unemployment. In view of the importance of these projects, most developing countries have concentrated their efforts on them. They have encouraged the establishment of small and medium industries, especially after they have proved their ability and efficiency in dealing with the major problems facing different economies.

The banking system plays an important role by finan

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Publication Date
Wed May 01 2013
Journal Name
Chemical And Process Engineering Research
Synthesis and Characterization of Polycyclicacetal Derived from PEG & Erythro-Ascorbic Acid Derivative and Study Its Effect on the Activity of ACh Enzyme (In Vitro)
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Polycyclicacetal was prepared from the reaction of PEG with aldehyde derived from Erythro-ascorbic acid (pentulosono-ɣ-lactone-2,3-enedianisoate).All these compounds were characterized by Thin Layer Chromatography (TLC) and FTIR spectra and aldehyde was also characterized by (U.V-Vis), 1HNMR, 13CNMR, and mass spectra.The inhibitory effect of prepared polymer on the activity of human serum AcetylCholinesterase has been studied in vitro. The polymer showed a remarkable activity at low concentration (4.7x10-3 – 4.7x10-8M).

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