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.
Phonological metathesis can be defined as an alternation in the normal sequence of two sounds under certain conditions. The present paper is intended to give a detailed synchronic description of phonological metathesis in Iraqi Arabic dialect. For data collection, the researchers have adopted two naturalistic techniques, viz., observation and notes taking. A synchronic analysis is carried out to provide some evidence that describe the sequential change of phonological metathesis in the dialect under investigation. Such sequential changes of metathesized sounds are presented and tabulated. The study concludes with the following finding that this process is not limited to cases where two consonant sounds are transposed, but three consonant
... Show MoreThis study was conducted to determine the side effects of dexamethasone n some physiological and immunological criteria, which included, Measuring sugar level, liver (ALT, AST , LDH, Total protein) and kidney function (urea, createnine), total and differential count of W.B.C,CRP, TNF-α ,IL6,IL10. thirty rats were divided into two groups (15\ rat). G1: This group was considered negative control injection with normal saline, G2: This group was injected with 2 mg\kg dexamethasone. The results showed a significant increase in the level of enzymesALT, AST and sugar levels and decreased level of total protein in the group treated with the drug, also showed, a significant decrease in the total number of W.B.C an
... Show MoreThe corrosion behavior of low carbon steel in washing water of crude oil solution has been studied potentiostatically at five temperatures in the range (30–70)°C .The corrosion potential shifted to more negative values with increasing temperature and the corrosion current density increased with increasing temperature. Folic acid had on inhibiting effect on the corrosion of low carbon steel in washing water at a concentration (5× 10-4-- 5× 10-3 ) mol/dm3 over the temperature range (30–70)°C. Values of the protection efficiency were calculated from the corrosion current density .From the general results for this study, it can be seen that thermodynamic and kinetic function were also calculated (?G, ?S, ?H and Ea )
... Show MoreThe aim of this study is to determine the organic and inorganic components of bile and gallstones in Iraqi patients. Forty seven patients were included in this study with mean age (53+7) years and BMI (30.82+4.18) Kg/m2. Bile was classified according to its corresponding stones into: Bile of Mixed stones and Bile of pigment stones. IR spectra were studied for both types of stones and their bile in addition to biochemical analysis for organic and inorganic components. The organic components include: (cholesterol, bilirubin, bile salts, and phospholipids), while inorganic components include salts of: (calcium, phosphorus, iron, cupper and magnesium). The results reveal to there was significant low levels (p<0.005) of bile salts and phospholi
... Show MoreA group of amino derivatives [4-aminobenzenesulfonamide,4-amino-N¹ methylbenzenesulfonamide, or N¹-(4-aminophenylsulfonyl)acetamide] bound to carboxyl group of mefenamic acid a well known nonsteroidal anti-inflammatory drugs (NSAIDs) were designed and synthesized for evaluation as a potential anti-inflammatory agent. In vivo acute anti-inflammatory activity of the final compounds (9, 10 and 11) was evaluated in rat using egg-white induced edema model of inflammation in a dose equivalent to (7.5mg/Kg) of mefenamic acid. All tested compounds produced a significant reduction in paw edema with respect to the effect of propylene glycol 50% v/v (control group). Moreover, the 4-amino-N-methylbenzenesulfonamide derivative (c
... Show More—This paper studies the control motion of a single link flexible joint robot by using a hierarchical non-singular terminal sliding mode controller (HNTSMC). In comparison to the conventional sliding mode controller (CSMC), the proposed algorithm (NTSMC) not only can conserve characteristics of the convention CSMC, such as easy implementation, guaranteed stability and good robustness against system uncertainties and external disturbances, but also can ensure a faster convergence rate of the systems states to zero in a finite time and singularity free. The flexible joint robot (FJR) is a two degree of freedom (2DOF) nonlinear and underactuated system. The system here is modeled as a fourth order system by using Lagrangian method. Based on t
... Show MoreIn this paper the experimentally obtained conditions for the fusion splicing with photonic crystal fibers (PCF) having large mode areas were reported. The physical mechanism of the splice loss and the microhole collapse property of photonic crystal fiber (PCF) were studied. By controlling the arc-power and the arc-time of a conventional electric arc fusion splicer (FSM-60S), the minimum loss of splicing for fusion two conventional single mode fibers (SMF-28) was (0.00dB), which has similar mode field diameter. For splicing PCF (LMA-10) with a conventional single mode fiber (SMF-28), the loss was increased due to the mode field mismatch.
Abstract
The research aims to identify the mediator role of workplace spirituality in the relationship between psychological capital and entrepreneurial behavior: field research to a sample opinions from employees at the center of the Iraqi ministry of Oil . The importance of the current research emerged from paucity of studies that have attempted to identify and know the nature of the relationship between the variables as well as trying to find the current address and realistic problem directly affects the performance of employees in the Iraqi oil sector.
In order to achieve the goal of research the use of the analytical method (quantitative)
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