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.
Background: The microbial production of substances that have the potency to suppress the growth of other microorganisms is probably one of the prevalent defense strategy developed in nature, microorganisms produce a variable bunch of microbial defense systems, which include antibiotics, metabolic by-products, lytic agents, bacteriocins and others. Objective: The purpose of the present study was to isolate and identify Enterococcus faecium isolates then detecting its ability of carrying the gene responsible for enterocin production in this species. Materials and methods: Out of 50 samples from different sources (food and clinical sources) were collected for the Enterococcus faecium isolation, and the isolated bacteria Enterococ
... Show MoreThe partial level density PLD of pre-equilibrium reactions that are described by Ericson’s formula has been studied using different formulae of single particle level density . The parameter was used from the equidistant spacing model (ESM) model and the non- equidistant spacing model (non-ESM) and another formula of are derived from the relation between and level density parameter . The formulae used to derive are the Roher formula, Egidy formula, Yukawa formula, and Thomas –Fermi formula. The partial level density results that depend on from the Thomas-Fermi formula show a good agreement with the experimental data.
KE Sharquie, AA Noaimi, MS Younis, BS Al-Sultani, Journal of Cosmetics, Dermatological Sciences and Applications, 2014 - Cited by 5
The target of this study was to study the natural phytochemical components of the head (capsule) of Cynara scolymus cultivated in Iraq. The head (capsule) of plant was extracted by maceration in70% ethanol for 72 hours, and fractioned by hexane, chloroform and ethyl acetate. Preliminary qualitative phytochemical screening was performed on the ethyl acetate fraction for capsule was revealed the presence of flavonoid and aromatic acids. These were examined by (high -performance liquid chromatography) (HPLC diodarray), (high- performance thin-layer chromatography)(HPTLC).
Flavonoids were isolated by preparative layer chromatography and aromatic acid was isolated by preparative high-
... Show MoreThe general trend in Iraqi banks is focused towards the application of international financial reporting standards, especially the international financial reporting standard IFRS 9 “Financial Instruments”, in addition to the directives issued on the Central Bank of Iraq’s instructions for the year 2018 regarding the development of expected credit losses models, and not to adhere to a specific method for calculating these losses and authorizing the banks’ departments to adopt the method of calculating losses that suits the nature of the bank’s activity and to be consistent in its use from time to time. The research problem revolves around the different methodologies for calculatin
... Show MoreBACKGROUND: HLA-B27 can effect clinical presentation and course of ankylosing spondylitis. Different detection techniques of HLA-B27 are available with variable sensitivities and specificities. OBJECTIVE: To compare serologic and molecular diagnostic techniques of detecting HLA-B27 status and to correlate it with some clinical variables among ankylosing spondylitis patients. PATIENTS AND METHODS: A cross-sectional study was conducted on 83 Iraqi patients with ankylosing spondylitis. Clinical and laboratory evaluations were reported. HLA-B27 status was determined in all patients by real-time PCR using HLA-B27 RealFast™ kit; ELISA method was used as well to detect soluble serum HLA-B27 antigens using Human Leukocyte Antigen® kit. RESULTS:
... Show MoreImitation learning is an effective method for training an autonomous agent to accomplish a task by imitating expert behaviors in their demonstrations. However, traditional imitation learning methods require a large number of expert demonstrations in order to learn a complex behavior. Such a disadvantage has limited the potential of imitation learning in complex tasks where the expert demonstrations are not sufficient. In order to address the problem, we propose a Generative Adversarial Network-based model which is designed to learn optimal policies using only a single demonstration. The proposed model is evaluated on two simulated tasks in comparison with other methods. The results show that our proposed model is capable of completing co
... Show MoreIn this study serum total sailie acid concentration were tested as a scrological marker of discases activity to cvalute the result of the test in the diagonosis oe enteric fever(TSA) was measured in the serum od (50) patines with typhi fever(50)pa-tients
The topic of strategic intelligence is considered as important topics that acquires the attention of organizations, Because of its role in supplying the decision-making centers by strategic ideas according to the opportunities and threats facing the organization, in an effort to improve the performance of their organizations to reach the high performance organization.
A lot of organizations lack to strategy guides the strategic intelligence towards achieving high performance organization.
This research aims to determine the level of strategic intelligence that characterized the leaders of diseases and kidney transplant center in Medicine city. What is the application level of the
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