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.
Conditional logistic regression is often used to study the relationship between event outcomes and specific prognostic factors in order to application of logistic regression and utilizing its predictive capabilities into environmental studies. This research seeks to demonstrate a novel approach of implementing conditional logistic regression in environmental research through inference methods predicated on longitudinal data. Thus, statistical analysis of longitudinal data requires methods that can properly take into account the interdependence within-subjects for the response measurements. If this correlation ignored then inferences such as statistical tests and confidence intervals can be invalid largely.
Free Radical Copolymerization of Styrene/ Methyl Methacrylate were prepared chemically under Nitrogen ,which was investigated, in the present of Benzoyl Peroxide as Initiator at concentration of 2 × 10-3 molar at 70 °C, which was carried out in Benzene as solvent to a certain low conversion . FT-IR spectra were used for determining of the monomer reactivity ratios ,which was obtained by employing the conventional linearization method of Fineman-Ross (F-R) and Kelen-Tüdos (K- T). The experimental results showed the average value for the Styrene r1 / Methyl Methacrylate r2 system, Sty r1 = 0.45 , MMA r2 = 0.38 in the (F–R) Method and r1 = 0.49 , r2 = 0.35 in the (K–T) Method, The Results of this indicated show the random distri
... Show MoreDiscussed the research variables are important, privatization options and strategic analysis of the external environment, and that the purpose of the research is the trade-off between privatization options and choose the most appropriate alternative in proportion to the external environment, the research aims to determine the privatization the most appropriate option for companies and public contracting, showing the importance of the study provide the privatization of public companies as a strategy can all its way public sector organizations from the transfer of work practices or private sector organizations and mechanisms to it as contributing to improving the level of skills Develop the current and future level of performance,
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In this research provide theoretical aspects of one of the most important statistical distributions which it is Lomax, which has many applications in several areas, set of estimation methods was used(MLE,LSE,GWPM) and compare with (RRE) estimation method ,in order to find out best estimation method set of simulation experiment (36) with many replications in order to get mean square error and used it to make compare , simulation experiment contrast with (estimation method, sample size ,value of location and shape parameter) results show that estimation method effected by simulation experiment factors and ability of using other estimation methods such as(Shrinkage, jackknif
... Show MoreThe study deals with the issue of multi-choice linear mathematical programming. The right side of the constraints will be multi-choice. However, the issue of multi-purpose mathematical programming can not be solved directly through linear or nonlinear techniques. The idea is to transform this matter into a normal linear problem and solve it In this research, a simple technique is introduced that enables us to deal with this issue as regular linear programming. The idea is to introduce a number of binary variables And its use to create a linear combination gives one parameter was used multiple. As well as the options of linear programming model to maximize profits to the General Company for Plastic Industries product irrigation sy
... Show MoreIs in this research review of the way minimum absolute deviations values based on linear programming method to estimate the parameters of simple linear regression model and give an overview of this model. We were modeling method deviations of the absolute values proposed using a scale of dispersion and composition of a simple linear regression model based on the proposed measure. Object of the work is to find the capabilities of not affected by abnormal values by using numerical method and at the lowest possible recurrence.
The two parameters of Exponential-Rayleigh distribution were estimated using the maximum likelihood estimation method (MLE) for progressively censoring data. To find estimated values for these two scale parameters using real data for COVID-19 which was taken from the Iraqi Ministry of Health and Environment, AL-Karkh General Hospital. Then the Chi-square test was utilized to determine if the sample (data) corresponded with the Exponential-Rayleigh distribution (ER). Employing the nonlinear membership function (s-function) to find fuzzy numbers for these parameters estimators. Then utilizing the ranking function transforms the fuzzy numbers into crisp numbers. Finally, using mean square error (MSE) to compare the outcomes of the survival
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The problem of missing data represents a major obstacle before researchers in the process of data analysis in different fields since , this problem is a recurrent one in all fields of study including social , medical , astronomical and clinical experiments .
The presence of such a problem within the data to be studied may influence negatively on the analysis and it may lead to misleading conclusions , together with the fact that these conclusions that result from a great bias caused by that problem in spite of the efficiency of wavelet methods but they are also affected by the missing of data , in addition to the impact of the problem of miss of accuracy estimation
... Show MoreThe Neutron Fermi Age, t, and the neutron slowing down density, q (r, t) , have been measured for some materials such as Graphite and Iron by using gamma spectrometry system UCS-30 with NaI (Tl) detector. This technique was applied for Graphite and Iron materials by using Indium foils covered by Cadmium and the measurements done at the Indium resonance of 1.46 eV. These materials are exposed to a plane 241Am/Be neutron source with recent activity 38 mCi. The measurements of the Fermi Age were found to be t = 297 ± 21 cm2 for Graphite, t = 400 ± 28 cm2 for Iron. Neutron slowing down density was also calculated depending on the recent experimental t value and distance.