130 research outputs found
Exome sequencing identified rare variants in genes HSPG2 and ATP2B4 in a family segregating developmental dysplasia of the hip
Functional analysis of germline <em>VANGL2</em> variants using rescue assays of <em>vangl2</em> knockout zebrafish
\ua9 The Author(s) 2023. Published by Oxford University Press. Developmental studies have shown that the evolutionarily conserved Wnt Planar Cell Polarity (PCP) pathway is essential for the development of a diverse range of tissues and organs including the brain, spinal cord, heart and sensory organs, as well as establishment of the left-right body axis. Germline mutations in the highly conserved PCP gene VANGL2 in humans have only been associated with central nervous system malformations, and functional testing to understand variant impact has not been performed. Here we report three new families with missense variants in VANGL2 associated with heterotaxy and congenital heart disease p.(Arg169His), non-syndromic hearing loss p.(Glu465Ala) and congenital heart disease with brain defects p.(Arg135Trp). To test the in vivo impact of these and previously described variants, we have established clinically-relevant assays using mRNA rescue of the vangl2 mutant zebrafish. We show that all variants disrupt Vangl2 function, although to different extents and depending on the developmental process. We also begin to identify that different VANGL2 missense variants may be haploinsufficient and discuss evidence in support of pathogenicity. Together, this study demonstrates that zebrafish present a suitable pipeline to investigate variants of unknown significance and suggests new avenues for investigation of the different developmental contexts of VANGL2 function that are clinically meaningful
Mucormycosis co-infection in COVID-19 patients: An update
Mucormycosis (MCM) is a rare fungal disorder that has recently been increased in parallel with novel COVID-19 infection. MCM with COVID-19 is extremely lethal, particularly in immunocompromised individuals. The collection of available scientific information helps in the management of this co-infection, but still, the main question on COVID-19, whether it is occasional, participatory, concurrent, or coincidental needs to be addressed. Several case reports of these co-infections have been explained as causal associations, but the direct contribution in immunocompromised individuals remains to be explored completely. This review aims to provide an update that serves as a guide for the diagnosis and treatment of MCM patients’ co-infection with COVID-19. The initial report has suggested that COVID-19 patients might be susceptible to developing invasive fungal infections by different species, including MCM as a co-infection. In spite of this, co-infection has been explored only in severe cases with common triangles: diabetes, diabetes ketoacidosis, and corticosteroids. Pathogenic mechanisms in the aggressiveness of MCM infection involves the reduction of phagocytic activity, attainable quantities of ferritin attributed with transferrin in diabetic ketoacidosis, and fungal heme oxygenase, which enhances iron absorption for its metabolism. Therefore, severe COVID-19 cases are associated with increased risk factors of invasive fungal co-infections. In addition, COVID-19 infection leads to reduction in cluster of differentiation, especially CD4+ and CD8+ T cell counts, which may be highly implicated in fungal co-infections. Thus, the progress in MCM management is dependent on a different strategy, including reduction or stopping of implicit predisposing factors, early intake of active antifungal drugs at appropriate doses, and complete elimination via surgical debridement of infected tissues
On Reliability of (n + 1)-Unit Warm Standby System based on Imperfect Repair Facility and Two Types of Failures
Leveraging a cloud-native architecture to enable semantic interconnectedness of data for cyber threat intelligence
Review of New Approaches for Fouling Mitigation in Membrane Separation Processes in Water Treatment Applications
This review investigates antifouling agents used in the process of membrane separation (MS), in reverse osmosis (RO), ultrafiltration (UF), nanofiltration (NF), microfiltration (MF), membrane distillation (MD), and membrane bioreactors (MBR), and clarifies the fouling mechanism. Membrane fouling is an incomplete substance formed on the membrane surface, which will quickly reduce the permeation flux and damage the membrane. Foulant is colloidal matter: organic matter (humic acid, protein, carbohydrate, nano/microplastics), inorganic matter (clay such as potassium montmorillonite, silica salt, metal oxide, etc.), and biological matter (viruses, bacteria and microorganisms adhering to the surface of the membrane in the case of nutrients) The stability and performance of the tested nanometric membranes, as well as the mitigation of pollution assisted by electricity and the cleaning and repair of membranes, are reported. Physical, chemical, physico-chemical, and biological methods for cleaning membranes. Biologically induced biofilm dispersion effectively controls fouling. Dynamic changes in membrane foulants during long-term operation are critical to the development and implementation of fouling control methods. Membrane fouling control strategies show that improving membrane performance is not only the end goal, but new ideas and new technologies for membrane cleaning and repair need to be explored and developed in order to develop future applications.</jats:p
Comprehensive Patient Health Care System for the Saudi Hospitals using Information and Mobile Computing Technologies
Information Technology (I. T) forms an important part of the healthcare solution. Accurate and up-to-date information is essential to continuous quality improvement in any organization, and particularly in an area as complex as healthcare. Therefore, diverse information systems must he integrated across the healthcare enterprise. The knowledge base in the medical field is large, complex, and growing rapidly. It includes scientific knowledge, as well as familiarity with the day-to-day business of provid ing healthcare. It is crucial to identify the processes in the healthcare sector that would he benefitted.from the support of Information Technology. The paper is focused on the use of Comprehensive Patient Healthcare System (CPHS) comprising two large subsystems, Computerized Patient Record System (CPRS) and Mobile Computing Clinical System (MC.C.S) as an application of state-of-the-art information and mobile computing technologies in Saudi Arabia hospitals as part of an ongoing research project. Significantly, the use of such technologies with highly efficient techniques for essential information gathering in a timely and cost effective manner in hospital sites is critical in order to understand how to enhance quality health care services to improve the life of patients and rapid decision making. It would therefore be expected that the project would facilitate optimal hospital resource utilization for medical purposes in Saudi Arabia. This development would therefore pave the way for opening new venues in which such highly advanced information and mobile computing technologies are employed in the hospitals and other sectors beyond the field of medical care.PAPER TYPE: Research PaperKEYWORDS : Comprehensive Patient Healthcare System (CPHS); Computerized Patient Record System (CPRS); Mobile Computing Clinical System (MCCS); Information Communication Technology (ICT); Mobile Technolog
Information Security: Securing a Network Device with Passwords to Protect Information
Information security is a complex and critical subject, conventionally only tackled by well-trained and experienced professionals. The importance of an effective password policy at the device level is obvious and often entire networks can be brought down due to the lack of simple password security on a single device. Typically, there are numerous devices on a network but the router is at the heart of any network which connects Local Area Networks (LANs) to the outside world (Internet). The Internet is essentially a collection of different Internet Service Providers (ISPs) and routers using Border Gateway Protocol (BGP) providing connectivity between different ISPs around the globe. The Internet is expanding at an enormous speed and secure exchange of information is needed by organisations and individuals alike. This paper emphasises the need for an effective device-level password security as an essential component of a more comprehensive organisational security policy. As an illustration, a practical implementation of effective password security is carried out using one of the most widely deployed routers in the industry.KEYWORDS : Information Security, Password Policy, Border Gateway Protocol (BGP), Internet Service Provider (ISP), Local Area Network (LAN)PAPER TYPE : Empirica
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