Search results for " multiple"

Seawater desalination : state of the art on conventional technologies

2009

Congenital secretory diarrhoea caused by activating germline mutations in GUCY2C

2016

Objective Congenital sodium diarrhoea (CSD) refers to a form of secretory diarrhoea with intrauterine onset and high faecal losses of sodium without congenital malformations. The molecular basis for CSD remains unknown. We clinically characterised a cohort of infants with CSD and set out to identify disease-causing mutations by genome-wide genetic testing. Design We performed whole-exome sequencing and chromosomal microarray analyses in 4 unrelated patients, followed by confirmatory Sanger sequencing of the likely disease-causing mutations in patients and in their family members, followed by functional studies. Results We identified novel de novo missense mutations in GUCY2C, the gene encod…

Joint transform correlator with spatial code division multiplexing.

2006

A joint transform correlator may suffer from overlapping of the zero diffraction order of the output, which does not contain relevant information, and the correlation peaks that appear in the first diffraction orders if objects are not sufficiently separated. Such overlapping significantly reduces the signal-to-noise ratio of the identification process. We propose a novel approach based on code division multiplexing technique in which the contrast of the identification peaks is significantly enhanced. The approach does not include placing the two objects side by side but rather includes code multiplexing them. Moreover, the code division multiplexing technique allows the space-bandwidth pro…

Transverse resolution improvement using rotating-grating time-multiplexing approach

2008

The ability to improve the limited resolving power of optical imaging systems while approaching the theoretical diffraction limit has been an attractive discipline with growing interest over the last years due to its benefits in many applied optics systems. This paper presents a new approach to achieve transverse superresolution in far-field imaging systems, with direct application in both digital microscopy and digital holographic microscopy. Theoretical analysis and computer simulations show the validity of the presented approach.

Cytotoxicity of cardiotonic steroids in sensitive and multidrug-resistant leukemia cells and the link with Na(+)/K(+)-ATPase.

2015

Cardiotonic steroids have long been in clinical use for treatment of heart failure and are now emerging as promising agents in various diseases, especially cancer. Their main target is Na(+)/K(+)-ATPase, a membrane protein involved in cellular ion homeostasis. Na(+)/K(+)-ATPase has been implicated in cancer biology by affecting several cellular events and signaling pathways in both sensitive and drug-resistant cancer cells. Hence, we investigated the cytotoxic activities of 66 cardiotonic steroids and cardiotonic steroid derivatives in sensitive CCRF-CEM and multidrug-resistant CEM/ADR5000 leukemia cells. Data were then subjected to quantitative structure-activity relationship analysis (QSA…

Triple solutions for nonlinear elliptic problems driven by a non-homogeneous operator

2020

Abstract Some multiplicity results for a parametric nonlinear Dirichlet problem involving a nonhomogeneous differential operator of p -Laplacian type are given. Via variational methods, the article furnishes new contributions and completes some previous results obtained for problems considering other types of differential operators and/or nonlinear terms satisfying different asymptotic conditions.

Existence of non-zero solutions for a Dirichlet problem driven by (p(x),q(x)-Laplacian

2021

The paper focuses on a Dirichlet problem driven by the (Formula presented.) -Laplacian. The existence of at least two non-zero solutions under suitable conditions on the nonlinear term is established. The approach is based on variational methods.

Are the new genetic tools for diagnosis of Wilson disease helpful in clinical practice?

2020

Summary The diagnosis of Wilson disease is not always easy. For many patients, a combination of tests reflecting disturbed copper metabolism may be needed. Testing for ATP7B variants has become part of the routine diagnostic approach. The methods of genetic testing include analysis of the 21 coding exons and intronic flanking sequences, in which exons with recurrent variants would be prioritised depending on the mutation frequency in the local population. If sequencing the entire ATP7B gene cannot identify 2 variants and the suspicion for Wilson disease is high, after reviewing the clinical data, WES (whole-exome sequencing) or WGS (whole-genome sequencing) could be applied. A workflow base…

The aristaless (Arx) gene: one gene for many "interneuronopathies".

2009

The ARX (Aristaless-related (X-linked) homeobox) gene is not only present in arthropods and their ancestors, but also in vertebrates including humans (ARX orthologs). The gene is composed of 5 coding exons and it is expressed predominantly in foetal and adult brain and skeletal muscle. In this review we report on our experience and review the existing literature on the genotype and phenotype heterogeneity associated with ARX abnormalities in humans ranging from severe neuronal migration defects (e.g., lissencephaly), to mild forms of X-linked mental retardation without apparent brain abnormalities. The ARX-related disorders are reviewed focusing on their clinical features and on the role of…

Antimicrobial Lessons From a Large Observational Cohort on Intra-abdominal Infections in Intensive Care Units

2021

Severe intra-abdominal infection commonly requires intensive care. Mortality is high and is mainly determined by disease-specific characteristics, i.e. setting of infection onset, anatomical barrier disruption, and severity of disease expression. Recent observations revealed that antimicrobial resistance appears equally common in community-acquired and late-onset hospital-acquired infection. This challenges basic principles in anti-infective therapy guidelines, including the paradigm that pathogens involved in community-acquired infection are covered by standard empiric antimicrobial regimens, and second, the concept of nosocomial acquisition as the main driver for resistance involvement. I…