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 b

This article deals with the impact of including transverse ribs within the absorber tube of the concentrated linear Fresnel collector (CLFRC) system with a secondary compound parabolic collector (CPC) on thermal and flow performance coefficients. The enhancement rates of heat transfer due to varying governing parameters were compared and analyzed parametrically at Reynolds numbers in the range 5,000–13,000, employing water as the heat transfer fluid. Simulations were performed to solve the governing equations using the finite volume method (FVM) under various boundary conditions. For all Reynolds numbers, the average Nusselt number in the circular tube in the CLFRC system with ribs was found to be larger than that of the plain abs

In solar-thermal adsorption/desorption processes, it is not always possible to preserve equal operating times for the adsorption/desorption modes due to the fluctuating supply nature of the source which largely affects the system’s operating conditions. This paper seeks to examine the impact of adopting unequal adsorption/desorption times on the entire cooling performance of solar adsorption systems. A cooling system with silica gel–water as adsorbent-adsorbate pair has been built and tested under the climatic condition of Iraq. A mathematical model has been established to predict the system performance, and the results are successfully validated via the experimental findings. The results show that, the system can be operational

The hydraulic behavior of the flow can be changed by using large-scale geometric roughness elements in open channels. This change can help in controlling erosions and sedimentations along the mainstream of the channel. Roughness elements can be large stone or concrete blocks placed at the channel's bed to impose more resistance in the bed. The geometry of the roughness elements, numbers used, and configuration are parameters that can affect the flow's hydraulic characteristics. In this paper, velocity distribution along the flume was theoretically investigated using a series of tests of T-shape roughness elements, fixed height, arranged in three different configurations, differ in the number of lines of roughness element

This study focused on determining the markers of Macrophage migration inhibitor (MIF), as well as the N-telopeptides of type I bone collagen (NTX), and some other parameters (alkaline phosphatase (ALP), vitamin D (Vit D), calcium (Ca), phosphorus (P), and magnesium (Mg), and their correlation with other parameters in osteoporosis. One hundred ten subjects were involved in the current study. There were two groups of patients: group I (30) women with severe osteoporosis and group II (30) women with mild osteoporosis. For comparison, 50 apparently healthy individuals were included as a control. Serum levels of MIF, and NTX were significantly higher in groups I and II as compared to the control group, which indicate that these two parameters

The amount of protein in the serum depends on the balance between the rate of its synthesis, and that of its catabolism or loss. Abnormal metabolism may result from nutritional deficiency, enzyme deficiency, abnormal secretion of hormones, or the actions of drugs and toxins. Renal cancer is the third most common malignancy of the genitourinary system, and accounts for 3% of adult malignancies globally. Total serum proteins were measured in malignant kidney tumor, benign kidney tumors, and non tumoral kidney diseases patient groups, as well as in healthy individuals. A significant decrease (p< 0.001) of total serum protein levels in patients with malignant kidney tumors when compared with those of benign tumors, non tumoral diseases, and hea

Mycobacterium tuberculosis resistance to rifampicin is mainly mediated through mutations in the rpoB gene. The effects of rpoB mutations are relieved by secondary mutations in rpoA or rpoC genes. This study aims to identify mutations in rpoB, rpoA, and rpoC genes of Mycobacterium tuberculosis isolates and clarify their contribution to rifampicin resistance. Seventy isolates were identified by acid-fast bacilli smear, Genexpert assay, and growth on Lowenstein Jensen medium. Drug susceptibility, testing was performed by the proportional method.  DNA extraction, PCR, and sequencing were accomplished for the entire rpoA, rpoB, and

major goal of the next-generation wireless communication systems is the development of a reliable high-speed wireless communication system that supports high user mobility. They must focus on increasing the link throughput and the network capacity. In this paper a novel, spectral efficient system is proposed for generating and transmitting twodimensional (2-D) orthogonal frequency division multiplexing (OFDM) symbols through 2- D inter-symbol interference (ISI) channel. Instead of conventional data mapping techniques, discrete finite Radon transform (FRAT) is used as a data mapping technique due to the increased orthogonality offered. As a result, the proposed structure gives a significant improvement in bit error rate (BER) performance. Th

Genetics play a major role in diabetic retinopathy DR, which is a leading cause of blindness worldwide. Although the factors such as how long a person has had diabetes and high blood sugar are important, the wide variation and progression of DR indicates to a clear genetic influence. Early studies focusing on a few candidate genes (such as VEGF) produced conflicting and population-dependent results. This confirmed the multifactorial nature of the disease and the limitations of small-scale studies. Conversely, genome wide association studies (GWAS) have provided more consistent findings in detection a new genes related to DR. For example, rs2239785 variant which is located in the APOL1 gene was found to be a high risk factor for diabetic mac

      Detecting protein complexes in protein-protein interaction (PPI) networks is a challenging problem in computational biology. To uncover a PPI network into a complex structure, different meta-heuristic algorithms have been proposed in the literature. Unfortunately, many of such methods, including evolutionary algorithms (EAs), are based solely on the topological information of the network rather than on biological information. Despite the effectiveness of EAs over heuristic methods, more inherent biological properties of proteins are rarely investigated and exploited in these approaches. In this paper, we proposed an EA with a new mutation operator for complex detection problems. The proposed mutation operator is formulate