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: For decades, the use of naturally accessible materials in treating human disease has been widespread. The goal of this study was to determine the anti-fungal effectiveness /of the lemongrass essential oil (LGEO) versus Candida albicans (C. albicans) adhesion to polymethylmethacrylate (PMMA) materials. Material and methods: LGEO's anti-fungal activity was tested against C. albicans adhesion using the following concentration of LGEO in PMMA monomer (2.5 vol. %, 5 vol. % LGEO) selected from the pilot study as the best two effective concentrations. A total of 40 specimens were fabricated for the candida adherence test and were subdivided into four equal groups: negative control 0 vol. % addition, experimental with 2.5 vol. % and
... Show MoreThe impacts of numerous important factors on the Energy Absorption (EA) of torsional Reinforced Concrete (RC) beams strengthened with external FRP is the main purpose and innovation of the current research. A total of 81 datasets were collected from previous studies, focused on the investigation of EA behaviour. The impact of nine different parameters on the Torsional EA of RC-beams was examined and evaluated, namely the concrete compressive strength (f’c), steel yield strength (fy), FRP thickness (tFRP), width-to-depth of the beam section (b/h), horizontal (ρh) and vertical (ρv) steel ratio, angle of twist (θu), ultimate torque (Tu), and FRP ultimate strength (fy-FRP). For the evaluation of the energy absorption capacity at di
... Show MoreThe Sebkha is considered the evaporative geomorphological features, where climate plays an active role. It forms part of the surface features in Mesopotamia plain of Iraqi, which is the most fertile lands, and because of complimentary natural and human factors turned most of the arable land to the territory of Sebkha lands. The use satellite image (Raw Data), Landsat 30M Mss for the year 1976 Landsat 7 ETM, and the Landsat 8 for year 2013 (LDCM) for the summer Landsat Data Continuity Mission and perform geometric correction, enhancements, and Subset image And a visual analysis Space visuals based on the analysis of spectral fingerprints earth's This study has shown that the best in the discrimination of Sebkha Remote sensing techniques a
... Show MoreThis research paper aims at studying the effect of adopting the corporate social responsibility on marketing performance indicators, where the study adopted the descriptive method for theoretical concepts, in addition to the statistical approach by using the SPSS v25 program to analyze the questionnaire and test the hypotheses of the study. The results showed that there is a positive correlation between social responsibility and marketing performance indicators, and the study found that it is better for NAFTAL Company to mix the environmental and social responsibilities in order to improve its marketing performance. Also, the study recommended that Naftal should adopt the four responsibilities equally, correctly and make its work
... Show MoreThe present study dealt with the removal of methylene blue from wastewater by using peanut hulls (PNH) as adsorbent. Two modes of operation were used in the present work, batch mode and inverse fluidized bed mode. In batch experiment, the effect of peanut hulls doses 2, 4, 8, 12 and 16 g, with constant initial pH =5.6, concentration 20 mg/L and particle size 2-3.35 mm were studied. The results showed that the percent removal of methylene blue increased with the increase of peanut hulls dose. Batch kinetics experiments showed that equilibrium time was about 3 hours, isotherm models (Langmuir and Freundlich) were used to correlate these results. The results showed that the (Freundlich) model gave the best fitting for adsorption capacity. D
... Show MoreThe aim of this research is to develop qualitative workouts based on certain sensory perceptions for the development of offensive basketball abilities and to determine their impact on female pupils. Several findings, based on the au-thor's extensive expertise instructing basketball materials and our closeness to the sample, revealed deficits in some sensory perceptions “in the game of basketball”, which impair the accuracy of passing the ball to the best team-mate. It also affects the pace of dribbling and the difficulty of selecting the op-timal moment and distance to fire. Therefore, the researcher designs qualita-tive activities based on many sensory experiences, including distance, speed, force, and direction shift. In addition, the
... Show MoreIn recent years, there has been growing interest in using Nanosystems in different biomedical applications. Among all metal nanoparticles, selenium nanoparticles have attracted the attention of many researchers due to its low toxicity and nutritional supplementation value. The purpose of the current study was designed to examine the possible effect of selenium nanoparticles in combination with fenugreek leaves extract (an edible herb with good medicinal properties) in the treatment of oxidative stress status-related to polycystic ovary syndrome in letrozole-induced PCOS (an imbalance of reproductive hormones that causes infertility) in adult female rats. Cold plasma was used in the preparation of selenium nanoparticles subsequently the prod
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