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.
Photonic Crystal Fiber Interferometers (PCFIs) are widely used for sensing applications. This work presents the fabrication and the characterization of a relative humidity sensor based on a polymer-coated photonic crystal fiber that operates in a Mach- Zehnder Interferometer (MZI) transmission mode. The fabrication of the sensor involved splicing a short (1 cm) length of Photonic Crystal Fiber (PCF) between two single-mode fibers (SMF). It was then coated with a layer of agarose solution. Experimental results showed that a high humidity sensitivity of 29.37 pm/%RH was achieved within a measurement range of 27–95%RH. The sensor also showed good repeatability, small size, measurement accuracy and wide humidity range. The RH sensitivity o
... Show MoreBearing capacity of soil is an important factor in designing shallow foundations. It is directly related to foundation dimensions and consequently its performance. The calculations for obtaining the bearing capacity of a soil needs many varying parameters, for example soil type, depth of foundation, unit weight of soil, etc. which makes these calculation very variable–parameter dependent. This paper presents the results of comparison between the theoretical equation stated by Terzaghi and the Artificial Neural Networks (ANN) technique to estimate the ultimate bearing capacity of the strip shallow footing on sandy soils. The results show a very good agreement between the theoretical solution and the ANN technique. Results revealed that us
... Show MoreA fixed callus weight of 150 mg was induced from immature embryos of three bread wheat Triticum aestivum L. genotypes (Tamos 2, El-izz and Mutant 1) cultured on nutrient medium {MS) containing Polyethylene glycol (PEG-6000) supplemented with concentrations (0.0, 3.0, 6.0, 9.0 or 12.0%) to evaluate their tolerance to water stress. Cultures were incubated in darkness at temperature of 25?1 ?C. Callus fresh and dry weights were recorded and soluble Carbohydrate and the amino acid Proline concentrations were determined. Results showed that there were significant differences in studied parameters among bread wheat genotypes of which Tamos 2 was higher in callus average fresh and dry weights which gave 353.33 and 38.46 mg/cultured tube respecti
... Show MoreThe Asymmetrical Castellated concavely – curved soffit Steel Beams with RPC and Lacing Reinforcement improves compactness and local buckling (web and flange local buckling), vertical shear strength at gross section (web crippling and web yielding at the fillet), and net section ( net vertical shear strength proportioned between the top and bottom tees relative to their areas (Yielding)), horizontal shear strength in web post (Yielding), web post-buckling strength, overall beam flexure strength, tee Vierendeel bending moment and lateral-torsional buckling, as a result of steel section encasement. This study presents two concentrated loads test results for seven specimens Asymmetrical Castellated concavely – curved soffit Steel Be
... Show MoreIn this research study the effect of irradiation by (CW) CO2 laser on some optical properties of (Cds) doping by Ni thin films of (1)µm thickness has been prepared by heat evaporation method. (X-Ray) diffraction technique showed the prepared films before and after irradiation are ploy crystalline hexagonal structure, optical properties were include recording of absorbance spectra for prepared films in the range of (400-1000) nm wave lengths, the absorption coefficient and the energy gap were calculated before and after irradiation, finally the irradiation affected (CdS) thin films by changing its color from the Transparent yellow to dark rough yellow and decrease the value absorption coefficient also increase the value of energy gap.
The present study employed the NAG-4SX3-3D analyzer to precisely measure the energy response of the sensor. The goal was to enhance the understanding of this technology by providing expert information about the device. This technology offers an economical, quick, accurate, and sensitive approach. By utilizing the turbidity method, Cyproheptadine hydrochloride (CPH) was quantified in pharmaceutical samples without the need for additional substances. CPH is expected to undergo a direct reaction with calcium hexacyanoferrate, resulting in the formation of white precipitates. The linear range for CPH measurement falls within the range of (0.008–30) mM. The relative standard deviation (RSD) for six repetitions at concentrations of (6 and
... Show MoreA true random TTL pulse generator was implemented and investigated for quantum key distribution systems. The random TTL signals are generated by low cost components available in the local markets. The TTL signals are obtained by using true random binary sequences based on registering photon arrival time difference registered in coincidence windows between two single – photon detectors. The true random TTL pulse generator performance was tested by using time to digital converters which gives accurate readings for photon arrival time. The proposed true random pulse TTL generator can be used in any quantum -key distribution system for random operation of the transmitters for these systems
This paper investigated the fatigue life behavior of two composite materials subjected to different times of shot peening (2, 4 and 6 min).The first material prepared from unsaturated polyester with E-glass reinforcement by 33% volume fraction. While, the second one was prepared from unsaturated polyester with aluminum powder by2.5% volume fraction. The experimental results showed that the improvement in endurance limit was obtained (for the first material) at 2, 4 and 6 min shot peening times where the percentage of maximum improvement was 25% at shot peening time of 6 min. While, the endurance limit of the second material decreased at shot peening times of 2, 4 and 6 min where the percentage of maximum reduction was 29 % at shot peenin
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